SNP Links for Protein (Select 1034602092) - SNP

Links from Protein

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Select item 14903982471.

rs1490398247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12746001 (GRCh38)
17:12649318 (GRCh37)
Canonical SPDI:: NC_000017.11:12746000:A:G
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.12746001A>G, NC_000017.10:g.12649318A>G, NG_012972.1:g.85112A>G, NM_153604.4:c.1054A>G, NM_153604.3:c.1054A>G, NM_153604.2:c.1054A>G, NM_001146312.3:c.1054A>G, NM_001146312.2:c.1054A>G, NM_001146312.1:c.1054A>G, NM_001378306.1:c.817A>G, XM_017025342.1:c.928A>G, XM_005256863.1:c.1054A>G, NM_001146313.1:c.766A>G, NP_705832.1:p.Ser352Gly, NP_001139784.1:p.Ser352Gly, NP_001365235.1:p.Ser273Gly, XP_016880831.1:p.Ser310Gly, XP_005256920.1:p.Ser352Gly

Select item 14903560132.

rs1490356013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12717407 (GRCh38)
17:12620724 (GRCh37)
Canonical SPDI:: NC_000017.11:12717406:T:C
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12717407T>C, NC_000017.10:g.12620724T>C, NG_012972.1:g.56518T>C, NM_153604.4:c.239T>C, NM_153604.3:c.239T>C, NM_153604.2:c.239T>C, NM_001146312.3:c.239T>C, NM_001146312.2:c.239T>C, NM_001146312.1:c.239T>C, NM_001378306.1:c.2T>C, XM_017025342.1:c.239T>C, XM_005256863.1:c.239T>C, NP_705832.1:p.Met80Thr, NP_001139784.1:p.Met80Thr, NP_001365235.1:p.Met1Thr, XP_016880831.1:p.Met80Thr, XP_005256920.1:p.Met80Thr

Select item 14903048713.

rs1490304871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12744303 (GRCh38)
17:12647620 (GRCh37)
Canonical SPDI:: NC_000017.11:12744302:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12744303C>T, NC_000017.10:g.12647620C>T, NG_012972.1:g.83414C>T, NM_153604.4:c.838C>T, NM_153604.3:c.838C>T, NM_153604.2:c.838C>T, NM_001146312.3:c.838C>T, NM_001146312.2:c.838C>T, NM_001146312.1:c.838C>T, NM_001378306.1:c.601C>T, XM_017025342.1:c.712C>T, XM_005256863.1:c.838C>T, NM_001146313.1:c.550C>T, NP_705832.1:p.Pro280Ser, NP_001139784.1:p.Pro280Ser, NP_001365235.1:p.Pro201Ser, XP_016880831.1:p.Pro238Ser, XP_005256920.1:p.Pro280Ser

Select item 14902694424.

rs1490269442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12752683 (GRCh38)
17:12656000 (GRCh37)
Canonical SPDI:: NC_000017.11:12752682:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12752683G>A, NC_000017.10:g.12656000G>A, NG_012972.1:g.91794G>A, NM_153604.4:c.1395G>A, NM_153604.3:c.1395G>A, NM_153604.2:c.1395G>A, NM_001146312.3:c.1395G>A, NM_001146312.2:c.1395G>A, NM_001146312.1:c.1395G>A, NM_001378306.1:c.1158G>A, XM_017025342.1:c.1269G>A, XM_005256863.1:c.1395G>A, NM_001146313.1:c.1107G>A

Select item 14901227205.

rs1490122720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12744209 (GRCh38)
17:12647526 (GRCh37)
Canonical SPDI:: NC_000017.11:12744208:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.12744209C>T, NC_000017.10:g.12647526C>T, NG_012972.1:g.83320C>T, NM_153604.4:c.744C>T, NM_153604.3:c.744C>T, NM_153604.2:c.744C>T, NM_001146312.3:c.744C>T, NM_001146312.2:c.744C>T, NM_001146312.1:c.744C>T, NM_001378306.1:c.507C>T, XM_017025342.1:c.618C>T, XM_005256863.1:c.744C>T, NM_001146313.1:c.456C>T

Select item 14889401576.

rs1488940157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:12753070 (GRCh38)
17:12656387 (GRCh37)
Canonical SPDI:: NC_000017.11:12753069:A:C
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12753070A>C, NC_000017.10:g.12656387A>C, NG_012972.1:g.92181A>C, NM_153604.4:c.1782A>C, NM_153604.3:c.1782A>C, NM_153604.2:c.1782A>C, NM_001146312.3:c.1782A>C, NM_001146312.2:c.1782A>C, NM_001146312.1:c.1782A>C, NM_001378306.1:c.1545A>C, XM_017025342.1:c.1656A>C, XM_005256863.1:c.1782A>C, NM_001146313.1:c.1494A>C

Select item 14856517087.

rs1485651708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12752447 (GRCh38)
17:12655764 (GRCh37)
Canonical SPDI:: NC_000017.11:12752446:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12752447G>A, NC_000017.10:g.12655764G>A, NG_012972.1:g.91558G>A, NM_153604.4:c.1159G>A, NM_153604.3:c.1159G>A, NM_153604.2:c.1159G>A, NM_001146312.3:c.1159G>A, NM_001146312.2:c.1159G>A, NM_001146312.1:c.1159G>A, NM_001378306.1:c.922G>A, XM_017025342.1:c.1033G>A, XM_005256863.1:c.1159G>A, NM_001146313.1:c.871G>A, NP_705832.1:p.Gly387Ser, NP_001139784.1:p.Gly387Ser, NP_001365235.1:p.Gly308Ser, XP_016880831.1:p.Gly345Ser, XP_005256920.1:p.Gly387Ser

Select item 14845139718.

rs1484513971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12752541 (GRCh38)
17:12655858 (GRCh37)
Canonical SPDI:: NC_000017.11:12752540:T:C
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12752541T>C, NC_000017.10:g.12655858T>C, NG_012972.1:g.91652T>C, NM_153604.4:c.1253T>C, NM_153604.3:c.1253T>C, NM_153604.2:c.1253T>C, NM_001146312.3:c.1253T>C, NM_001146312.2:c.1253T>C, NM_001146312.1:c.1253T>C, NM_001378306.1:c.1016T>C, XM_017025342.1:c.1127T>C, XM_005256863.1:c.1253T>C, NM_001146313.1:c.965T>C, NP_705832.1:p.Ile418Thr, NP_001139784.1:p.Ile418Thr, NP_001365235.1:p.Ile339Thr, XP_016880831.1:p.Ile376Thr, XP_005256920.1:p.Ile418Thr

Select item 14844834899.

rs1484483489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:12753222 (GRCh38)
17:12656539 (GRCh37)
Canonical SPDI:: NC_000017.11:12753221:G:C
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12753222G>C, NC_000017.10:g.12656539G>C, NG_012972.1:g.92333G>C, NM_153604.4:c.1934G>C, NM_153604.3:c.1934G>C, NM_153604.2:c.1934G>C, NM_001146312.3:c.1934G>C, NM_001146312.2:c.1934G>C, NM_001146312.1:c.1934G>C, NM_001378306.1:c.1697G>C, XM_017025342.1:c.1808G>C, XM_005256863.1:c.1934G>C, NM_001146313.1:c.1646G>C, NP_705832.1:p.Ser645Thr, NP_001139784.1:p.Ser645Thr, NP_001365235.1:p.Ser566Thr, XP_016880831.1:p.Ser603Thr, XP_005256920.1:p.Ser645Thr

Select item 148394889510.

rs1483948895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12746046 (GRCh38)
17:12649363 (GRCh37)
Canonical SPDI:: NC_000017.11:12746045:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12746046C>T, NC_000017.10:g.12649363C>T, NG_012972.1:g.85157C>T, NM_153604.4:c.1099C>T, NM_153604.3:c.1099C>T, NM_153604.2:c.1099C>T, NM_001146312.3:c.1099C>T, NM_001146312.2:c.1099C>T, NM_001146312.1:c.1099C>T, NM_001378306.1:c.862C>T, XM_017025342.1:c.973C>T, XM_005256863.1:c.1099C>T, NM_001146313.1:c.811C>T, NP_705832.1:p.Leu367Phe, NP_001139784.1:p.Leu367Phe, NP_001365235.1:p.Leu288Phe, XP_016880831.1:p.Leu325Phe, XP_005256920.1:p.Leu367Phe

Select item 148355165811.

rs1483551658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12753291 (GRCh38)
17:12656608 (GRCh37)
Canonical SPDI:: NC_000017.11:12753290:A:G
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12753291A>G, NC_000017.10:g.12656608A>G, NG_012972.1:g.92402A>G, NM_153604.4:c.2003A>G, NM_153604.3:c.2003A>G, NM_153604.2:c.2003A>G, NM_001146312.3:c.2003A>G, NM_001146312.2:c.2003A>G, NM_001146312.1:c.2003A>G, NM_001378306.1:c.1766A>G, XM_017025342.1:c.1877A>G, XM_005256863.1:c.2003A>G, NM_001146313.1:c.1715A>G, NP_705832.1:p.Gln668Arg, NP_001139784.1:p.Gln668Arg, NP_001365235.1:p.Gln589Arg, XP_016880831.1:p.Gln626Arg, XP_005256920.1:p.Gln668Arg

Select item 148123313512.

rs1481233135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12744201 (GRCh38)
17:12647518 (GRCh37)
Canonical SPDI:: NC_000017.11:12744200:A:G
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.12744201A>G, NC_000017.10:g.12647518A>G, NG_012972.1:g.83312A>G, NM_153604.4:c.736A>G, NM_153604.3:c.736A>G, NM_153604.2:c.736A>G, NM_001146312.3:c.736A>G, NM_001146312.2:c.736A>G, NM_001146312.1:c.736A>G, NM_001378306.1:c.499A>G, XM_017025342.1:c.610A>G, XM_005256863.1:c.736A>G, NM_001146313.1:c.448A>G, NP_705832.1:p.Ser246Gly, NP_001139784.1:p.Ser246Gly, NP_001365235.1:p.Ser167Gly, XP_016880831.1:p.Ser204Gly, XP_005256920.1:p.Ser246Gly

Select item 148110295213.

rs1481102952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:12752574 (GRCh38)
17:12655891 (GRCh37)
Canonical SPDI:: NC_000017.11:12752573:C:G,NC_000017.11:12752573:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12752574C>G, NC_000017.11:g.12752574C>T, NC_000017.10:g.12655891C>G, NC_000017.10:g.12655891C>T, NG_012972.1:g.91685C>G, NG_012972.1:g.91685C>T, NM_153604.4:c.1286C>G, NM_153604.4:c.1286C>T, NM_153604.3:c.1286C>G, NM_153604.3:c.1286C>T, NM_153604.2:c.1286C>G, NM_153604.2:c.1286C>T, NM_001146312.3:c.1286C>G, NM_001146312.3:c.1286C>T, NM_001146312.2:c.1286C>G, NM_001146312.2:c.1286C>T, NM_001146312.1:c.1286C>G, NM_001146312.1:c.1286C>T, NM_001378306.1:c.1049C>G, NM_001378306.1:c.1049C>T, XM_017025342.1:c.1160C>G, XM_017025342.1:c.1160C>T, XM_005256863.1:c.1286C>G, XM_005256863.1:c.1286C>T, NM_001146313.1:c.998C>G, NM_001146313.1:c.998C>T, NP_705832.1:p.Thr429Arg, NP_705832.1:p.Thr429Met, NP_001139784.1:p.Thr429Arg, NP_001139784.1:p.Thr429Met, NP_001365235.1:p.Thr350Arg, NP_001365235.1:p.Thr350Met, XP_016880831.1:p.Thr387Arg, XP_016880831.1:p.Thr387Met, XP_005256920.1:p.Thr429Arg, XP_005256920.1:p.Thr429Met

Select item 148089788814.

rs1480897888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12746061 (GRCh38)
17:12649378 (GRCh37)
Canonical SPDI:: NC_000017.11:12746060:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12746061G>A, NC_000017.10:g.12649378G>A, NG_012972.1:g.85172G>A, NM_153604.4:c.1114G>A, NM_153604.3:c.1114G>A, NM_153604.2:c.1114G>A, NM_001146312.3:c.1114G>A, NM_001146312.2:c.1114G>A, NM_001146312.1:c.1114G>A, NM_001378306.1:c.877G>A, XM_017025342.1:c.988G>A, XM_005256863.1:c.1114G>A, NM_001146313.1:c.826G>A, NP_705832.1:p.Asp372Asn, NP_001139784.1:p.Asp372Asn, NP_001365235.1:p.Asp293Asn, XP_016880831.1:p.Asp330Asn, XP_005256920.1:p.Asp372Asn

Select item 148027390515.

rs1480273905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12744211 (GRCh38)
17:12647528 (GRCh37)
Canonical SPDI:: NC_000017.11:12744210:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000106/3 (TOMMO)
HGVS:: NC_000017.11:g.12744211G>A, NC_000017.10:g.12647528G>A, NG_012972.1:g.83322G>A, NM_153604.4:c.746G>A, NM_153604.3:c.746G>A, NM_153604.2:c.746G>A, NM_001146312.3:c.746G>A, NM_001146312.2:c.746G>A, NM_001146312.1:c.746G>A, NM_001378306.1:c.509G>A, XM_017025342.1:c.620G>A, XM_005256863.1:c.746G>A, NM_001146313.1:c.458G>A, NP_705832.1:p.Arg249His, NP_001139784.1:p.Arg249His, NP_001365235.1:p.Arg170His, XP_016880831.1:p.Arg207His, XP_005256920.1:p.Arg249His

Select item 147940041816.

rs1479400418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12752623 (GRCh38)
17:12655940 (GRCh37)
Canonical SPDI:: NC_000017.11:12752622:C:T
Gene:: MYOCD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12752623C>T, NC_000017.10:g.12655940C>T, NG_012972.1:g.91734C>T, NM_153604.4:c.1335C>T, NM_153604.3:c.1335C>T, NM_153604.2:c.1335C>T, NM_001146312.3:c.1335C>T, NM_001146312.2:c.1335C>T, NM_001146312.1:c.1335C>T, NM_001378306.1:c.1098C>T, XM_017025342.1:c.1209C>T, XM_005256863.1:c.1335C>T, NM_001146313.1:c.1047C>T

Select item 147861747817.

rs1478617478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:12763505 (GRCh38)
17:12666822 (GRCh37)
Canonical SPDI:: NC_000017.11:12763504:T:C
Gene:: MYOCD (Varview), ARHGAP44-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12763505T>C, NC_000017.10:g.12666822T>C, NG_012972.1:g.102616T>C, NM_153604.4:c.2678T>C, NM_153604.3:c.2678T>C, NM_153604.2:c.2678T>C, NM_001146312.3:c.2822T>C, NM_001146312.2:c.2822T>C, NM_001146312.1:c.2822T>C, NM_001378306.1:c.2585T>C, XM_017025342.1:c.2696T>C, XM_005256863.1:c.2693T>C, NR_104607.1:n.356A>G, NP_705832.1:p.Leu893Pro, NP_001139784.1:p.Leu941Pro, NP_001365235.1:p.Leu862Pro, XP_016880831.1:p.Leu899Pro, XP_005256920.1:p.Leu898Pro

Select item 147832671718.

rs1478326717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12744196 (GRCh38)
17:12647513 (GRCh37)
Canonical SPDI:: NC_000017.11:12744195:G:A
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.12744196G>A, NC_000017.10:g.12647513G>A, NG_012972.1:g.83307G>A, NM_153604.4:c.731G>A, NM_153604.3:c.731G>A, NM_153604.2:c.731G>A, NM_001146312.3:c.731G>A, NM_001146312.2:c.731G>A, NM_001146312.1:c.731G>A, NM_001378306.1:c.494G>A, XM_017025342.1:c.605G>A, XM_005256863.1:c.731G>A, NM_001146313.1:c.443G>A, NP_705832.1:p.Gly244Asp, NP_001139784.1:p.Gly244Asp, NP_001365235.1:p.Gly165Asp, XP_016880831.1:p.Gly202Asp, XP_005256920.1:p.Gly244Asp

Select item 147809077719.

rs1478090777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12705184 (GRCh38)
17:12608501 (GRCh37)
Canonical SPDI:: NC_000017.11:12705183:A:G
Gene:: MYOCD (Varview), MYOCD-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12705184A>G, NC_000017.10:g.12608501A>G, NG_012972.1:g.44295A>G, NM_153604.4:c.112A>G, NM_153604.3:c.112A>G, NM_153604.2:c.112A>G, NM_001146312.3:c.112A>G, NM_001146312.2:c.112A>G, NM_001146312.1:c.112A>G, NM_001378306.1:c.-170A>G, XM_017025342.1:c.112A>G, XM_005256863.1:c.112A>G, NP_705832.1:p.Ile38Val, NP_001139784.1:p.Ile38Val, XP_016880831.1:p.Ile38Val, XP_005256920.1:p.Ile38Val

Select item 147677804720.

rs1476778047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:12753300 (GRCh38)
17:12656617 (GRCh37)
Canonical SPDI:: NC_000017.11:12753299:G:C
Gene:: MYOCD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12753300G>C, NC_000017.10:g.12656617G>C, NG_012972.1:g.92411G>C, NM_153604.4:c.2012G>C, NM_153604.3:c.2012G>C, NM_153604.2:c.2012G>C, NM_001146312.3:c.2012G>C, NM_001146312.2:c.2012G>C, NM_001146312.1:c.2012G>C, NM_001378306.1:c.1775G>C, XM_017025342.1:c.1886G>C, XM_005256863.1:c.2012G>C, NM_001146313.1:c.1724G>C, NP_705832.1:p.Gly671Ala, NP_001139784.1:p.Gly671Ala, NP_001365235.1:p.Gly592Ala, XP_016880831.1:p.Gly629Ala, XP_005256920.1:p.Gly671Ala

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