SNP Links for Nucleotide (Select 333805658) - SNP

Links from Nucleotide

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Select item 14900129141.

rs1490012914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73512025 (GRCh38)
14:73978729 (GRCh37)
Canonical SPDI:: NC_000014.9:73512024:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.73512025G>A, NC_000014.8:g.73978729G>A, XM_011536761.4:c.1539C>T, XM_011536761.3:c.1539C>T, XM_011536761.2:c.1539C>T, XM_011536761.1:c.1539C>T, NM_203309.2:c.1539C>T, XR_002957552.2:n.1539C>T, XR_002957552.1:n.2110C>T, XM_024449582.2:c.1539C>T, XM_024449582.1:c.1539C>T, NM_001220484.1:c.1539C>T, XM_047431370.1:c.1539C>T, XM_047431371.1:c.270C>T

Select item 14896217102.

rs1489621710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73522841 (GRCh38)
14:73989545 (GRCh37)
Canonical SPDI:: NC_000014.9:73522840:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73522841A>G, NC_000014.8:g.73989545A>G, XM_011536761.4:c.312T>C, XM_011536761.3:c.312T>C, XM_011536761.2:c.312T>C, XM_011536761.1:c.312T>C, NM_203309.2:c.312T>C, XR_002957552.2:n.312T>C, XR_002957552.1:n.883T>C, XM_024449582.2:c.312T>C, XM_024449582.1:c.312T>C, NM_001220484.1:c.312T>C, XM_047431370.1:c.312T>C, XM_047431371.1:c.-770T>C

Select item 14895271113.

rs1489527111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:73500563 (GRCh38)
14:73967267 (GRCh37)
Canonical SPDI:: NC_000014.9:73500562:A:C,NC_000014.9:73500562:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.73500563A>C, NC_000014.9:g.73500563A>G, NC_000014.8:g.73967267A>C, NC_000014.8:g.73967267A>G, NM_203309.2:c.2273T>G, NM_203309.2:c.2273T>C, NM_001220484.1:c.2273T>G, NM_001220484.1:c.2273T>C, XM_047431370.1:c.2273T>G, XM_047431370.1:c.2273T>C, XM_047431371.1:c.1004T>G, XM_047431371.1:c.1004T>C, NP_976054.2:p.Ile758Ser, NP_976054.2:p.Ile758Thr, NP_001207413.1:p.Ile758Ser, NP_001207413.1:p.Ile758Thr, XP_047287326.1:p.Ile758Ser, XP_047287326.1:p.Ile758Thr, XP_047287327.1:p.Ile335Ser, XP_047287327.1:p.Ile335Thr

Select item 14882097114.

rs1488209711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73512122 (GRCh38)
14:73978826 (GRCh37)
Canonical SPDI:: NC_000014.9:73512121:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73512122T>C, NC_000014.8:g.73978826T>C, XM_011536761.4:c.1442A>G, XM_011536761.3:c.1442A>G, XM_011536761.2:c.1442A>G, XM_011536761.1:c.1442A>G, NM_203309.2:c.1442A>G, XR_002957552.2:n.1442A>G, XR_002957552.1:n.2013A>G, XM_024449582.2:c.1442A>G, XM_024449582.1:c.1442A>G, NM_001220484.1:c.1442A>G, XM_047431370.1:c.1442A>G, XM_047431371.1:c.173A>G, XP_011535063.1:p.Glu481Gly, NP_976054.2:p.Glu481Gly, XP_024305350.1:p.Glu481Gly, NP_001207413.1:p.Glu481Gly, XP_047287326.1:p.Glu481Gly, XP_047287327.1:p.Glu58Gly

Select item 14875603385.

rs1487560338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73478619 (GRCh38)
14:73945324 (GRCh37)
Canonical SPDI:: NC_000014.9:73478618:C:T
Gene:: HEATR4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73478619C>T, NC_000014.8:g.73945324C>T, NM_203309.2:c.3068G>A, NM_001220484.1:c.3068G>A, XM_047431370.1:c.3068G>A, XM_047431371.1:c.1799G>A, NP_976054.2:p.Gly1023Asp, NP_001207413.1:p.Gly1023Asp, XP_047287326.1:p.Gly1023Asp, XP_047287327.1:p.Gly600Asp

Select item 14872730696.

rs1487273069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:73520954 (GRCh38)
14:73987658 (GRCh37)
Canonical SPDI:: NC_000014.9:73520953:G:C,NC_000014.9:73520953:G:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73520954G>C, NC_000014.9:g.73520954G>T, NC_000014.8:g.73987658G>C, NC_000014.8:g.73987658G>T, XM_011536761.4:c.967C>G, XM_011536761.4:c.967C>A, XM_011536761.3:c.967C>G, XM_011536761.3:c.967C>A, XM_011536761.2:c.967C>G, XM_011536761.2:c.967C>A, XM_011536761.1:c.967C>G, XM_011536761.1:c.967C>A, NM_203309.2:c.967C>G, NM_203309.2:c.967C>A, XR_002957552.2:n.967C>G, XR_002957552.2:n.967C>A, XR_002957552.1:n.1538C>G, XR_002957552.1:n.1538C>A, XM_024449582.2:c.967C>G, XM_024449582.2:c.967C>A, XM_024449582.1:c.967C>G, XM_024449582.1:c.967C>A, NM_001220484.1:c.967C>G, NM_001220484.1:c.967C>A, XM_047431370.1:c.967C>G, XM_047431370.1:c.967C>A, XP_011535063.1:p.Leu323Val, XP_011535063.1:p.Leu323Ile, NP_976054.2:p.Leu323Val, NP_976054.2:p.Leu323Ile, XP_024305350.1:p.Leu323Val, XP_024305350.1:p.Leu323Ile, NP_001207413.1:p.Leu323Val, NP_001207413.1:p.Leu323Ile, XP_047287326.1:p.Leu323Val, XP_047287326.1:p.Leu323Ile

Select item 14864956167.

rs1486495616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73522943 (GRCh38)
14:73989647 (GRCh37)
Canonical SPDI:: NC_000014.9:73522942:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73522943G>A, NC_000014.8:g.73989647G>A, XM_011536761.4:c.210C>T, XM_011536761.3:c.210C>T, XM_011536761.2:c.210C>T, XM_011536761.1:c.210C>T, NM_203309.2:c.210C>T, XR_002957552.2:n.210C>T, XR_002957552.1:n.781C>T, XM_024449582.2:c.210C>T, XM_024449582.1:c.210C>T, NM_001220484.1:c.210C>T, XM_047431370.1:c.210C>T, XM_047431371.1:c.-872C>T

Select item 14864737798.

rs1486473779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:73500704 (GRCh38)
14:73967408 (GRCh37)
Canonical SPDI:: NC_000014.9:73500703:T:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73500704T>G, NC_000014.8:g.73967408T>G, NM_203309.2:c.2132A>C, NM_001220484.1:c.2132A>C, XM_047431370.1:c.2132A>C, XM_047431371.1:c.863A>C, NP_976054.2:p.Gln711Pro, NP_001207413.1:p.Gln711Pro, XP_047287326.1:p.Gln711Pro, XP_047287327.1:p.Gln288Pro

Select item 14829481039.

rs1482948103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73499098 (GRCh38)
14:73965802 (GRCh37)
Canonical SPDI:: NC_000014.9:73499097:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.73499098A>G, NC_000014.8:g.73965802A>G, NM_203309.2:c.2329T>C, XR_002957552.2:n.2148T>C, XR_002957552.1:n.2719T>C, XM_024449582.2:c.*24T>C, XM_024449582.1:c.*24T>C, NM_001220484.1:c.2329T>C, XM_047431370.1:c.2329T>C, XM_047431371.1:c.1060T>C, NP_976054.2:p.Trp777Arg, NP_001207413.1:p.Trp777Arg, XP_047287326.1:p.Trp777Arg, XP_047287327.1:p.Trp354Arg

Select item 148035176410.

rs1480351764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73512062 (GRCh38)
14:73978766 (GRCh37)
Canonical SPDI:: NC_000014.9:73512061:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73512062G>A, NC_000014.8:g.73978766G>A, XM_011536761.4:c.1502C>T, XM_011536761.3:c.1502C>T, XM_011536761.2:c.1502C>T, XM_011536761.1:c.1502C>T, NM_203309.2:c.1502C>T, XR_002957552.2:n.1502C>T, XR_002957552.1:n.2073C>T, XM_024449582.2:c.1502C>T, XM_024449582.1:c.1502C>T, NM_001220484.1:c.1502C>T, XM_047431370.1:c.1502C>T, XM_047431371.1:c.233C>T, XP_011535063.1:p.Thr501Ile, NP_976054.2:p.Thr501Ile, XP_024305350.1:p.Thr501Ile, NP_001207413.1:p.Thr501Ile, XP_047287326.1:p.Thr501Ile, XP_047287327.1:p.Thr78Ile

Select item 147955385111.

rs1479553851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:73498172 (GRCh38)
14:73964876 (GRCh37)
Canonical SPDI:: NC_000014.9:73498171:G:A,NC_000014.9:73498171:G:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000014.9:g.73498172G>A, NC_000014.9:g.73498172G>T, NC_000014.8:g.73964876G>A, NC_000014.8:g.73964876G>T, NM_203309.2:c.2529C>T, NM_203309.2:c.2529C>A, NM_001220484.1:c.2529C>T, NM_001220484.1:c.2529C>A, XM_047431370.1:c.2529C>T, XM_047431370.1:c.2529C>A, XM_047431371.1:c.1260C>T, XM_047431371.1:c.1260C>A, NP_976054.2:p.Asn843Lys, NP_001207413.1:p.Asn843Lys, XP_047287326.1:p.Asn843Lys, XP_047287327.1:p.Asn420Lys

Select item 147920453012.

rs1479204530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73522771 (GRCh38)
14:73989475 (GRCh37)
Canonical SPDI:: NC_000014.9:73522770:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73522771A>G, NC_000014.8:g.73989475A>G, XM_011536761.4:c.382T>C, XM_011536761.3:c.382T>C, XM_011536761.2:c.382T>C, XM_011536761.1:c.382T>C, NM_203309.2:c.382T>C, XR_002957552.2:n.382T>C, XR_002957552.1:n.953T>C, XM_024449582.2:c.382T>C, XM_024449582.1:c.382T>C, NM_001220484.1:c.382T>C, XM_047431370.1:c.382T>C, XM_047431371.1:c.-700T>C

Select item 147898831313.

rs1478988313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:73498270 (GRCh38)
14:73964974 (GRCh37)
Canonical SPDI:: NC_000014.9:73498269:G:C
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73498270G>C, NC_000014.8:g.73964974G>C, NM_203309.2:c.2431C>G, XR_002957552.2:n.2250C>G, XR_002957552.1:n.2821C>G, NM_001220484.1:c.2431C>G, XM_047431370.1:c.2431C>G, XM_047431371.1:c.1162C>G, NP_976054.2:p.Pro811Ala, NP_001207413.1:p.Pro811Ala, XP_047287326.1:p.Pro811Ala, XP_047287327.1:p.Pro388Ala

Select item 147843029714.

rs1478430297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73499079 (GRCh38)
14:73965783 (GRCh37)
Canonical SPDI:: NC_000014.9:73499078:G:A
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73499079G>A, NC_000014.8:g.73965783G>A, NM_203309.2:c.2348C>T, XR_002957552.2:n.2167C>T, XR_002957552.1:n.2738C>T, XM_024449582.2:c.*43C>T, XM_024449582.1:c.*43C>T, NM_001220484.1:c.2348C>T, XM_047431370.1:c.2348C>T, XM_047431371.1:c.1079C>T, NP_976054.2:p.Ala783Val, NP_001207413.1:p.Ala783Val, XP_047287326.1:p.Ala783Val, XP_047287327.1:p.Ala360Val

Select item 147784862515.

rs1477848625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73508149 (GRCh38)
14:73974853 (GRCh37)
Canonical SPDI:: NC_000014.9:73508148:A:G
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73508149A>G, NC_000014.8:g.73974853A>G, XM_011536761.4:c.1866T>C, XM_011536761.3:c.1866T>C, XM_011536761.2:c.1866T>C, XM_011536761.1:c.1866T>C, NM_203309.2:c.1866T>C, XR_002957552.2:n.1866T>C, XR_002957552.1:n.2437T>C, XM_024449582.2:c.1866T>C, XM_024449582.1:c.1866T>C, NM_001220484.1:c.1866T>C, XM_047431370.1:c.1866T>C, XM_047431371.1:c.597T>C

Select item 147589255016.

rs1475892550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:73500632 (GRCh38)
14:73967336 (GRCh37)
Canonical SPDI:: NC_000014.9:73500631:A:G,NC_000014.9:73500631:A:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73500632A>G, NC_000014.9:g.73500632A>T, NC_000014.8:g.73967336A>G, NC_000014.8:g.73967336A>T, NM_203309.2:c.2204T>C, NM_203309.2:c.2204T>A, NM_001220484.1:c.2204T>C, NM_001220484.1:c.2204T>A, XM_047431370.1:c.2204T>C, XM_047431370.1:c.2204T>A, XM_047431371.1:c.935T>C, XM_047431371.1:c.935T>A, NP_976054.2:p.Leu735Pro, NP_976054.2:p.Leu735Gln, NP_001207413.1:p.Leu735Pro, NP_001207413.1:p.Leu735Gln, XP_047287326.1:p.Leu735Pro, XP_047287326.1:p.Leu735Gln, XP_047287327.1:p.Leu312Pro, XP_047287327.1:p.Leu312Gln

Select item 147572275017.

rs1475722750 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTGTCTGTGG>- [Show Flanks]
Chromosome:: 14:73520876 (GRCh38)
14:73987580 (GRCh37)
Canonical SPDI:: NC_000014.9:73520873:GGTGTTGTCTGTGG:GG
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73520876_73520887del, NC_000014.8:g.73987580_73987591del, XM_011536761.4:c.1036_1047del, XM_011536761.3:c.1036_1047del, XM_011536761.2:c.1036_1047del, XM_011536761.1:c.1036_1047del, NM_203309.2:c.1036_1047del, XR_002957552.2:n.1036_1047del, XR_002957552.1:n.1607_1618del, XM_024449582.2:c.1036_1047del, XM_024449582.1:c.1036_1047del, NM_001220484.1:c.1036_1047del, XM_047431370.1:c.1036_1047del, XP_011535063.1:p.Thr346_Thr349del, NP_976054.2:p.Thr346_Thr349del, XP_024305350.1:p.Thr346_Thr349del, NP_001207413.1:p.Thr346_Thr349del, XP_047287326.1:p.Thr346_Thr349del

Select item 147564242318.

rs1475642423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73530168 (GRCh38)
14:73996872 (GRCh37)
Canonical SPDI:: NC_000014.9:73530167:T:C
Gene:: HEATR4 (Varview), ACOT1 (Varview), LOC124903344 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.73530168T>C, NC_000014.8:g.73996872T>C, NM_001220484.1:c.-75A>G

Select item 147495764119.

rs1474957641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73500550 (GRCh38)
14:73967254 (GRCh37)
Canonical SPDI:: NC_000014.9:73500549:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.73500550C>T, NC_000014.8:g.73967254C>T, NM_203309.2:c.2286G>A, NM_001220484.1:c.2286G>A, XM_047431370.1:c.2286G>A, XM_047431371.1:c.1017G>A, NP_976054.2:p.Met762Ile, NP_001207413.1:p.Met762Ile, XP_047287326.1:p.Met762Ile, XP_047287327.1:p.Met339Ile

Select item 147432757220.

rs1474327572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73523162 (GRCh38)
14:73989866 (GRCh37)
Canonical SPDI:: NC_000014.9:73523161:C:T
Gene:: HEATR4 (Varview), ACOT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000014.9:g.73523162C>T, NC_000014.8:g.73989866C>T, NM_203309.2:c.-10G>A, NM_001220484.1:c.-10G>A, XM_047431370.1:c.-10G>A, XM_047431371.1:c.-1091G>A

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