SNP Links for Protein (Select 310703592) - SNP

Links from Protein

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Select item 14905734771.

rs1490573477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:48621269 (GRCh38)
2:48848408 (GRCh37)
Canonical SPDI:: NC_000002.12:48621268:C:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621269C>G, NC_000002.11:g.48848408C>G, NG_033050.2:g.96345C>G, NM_172311.3:c.2338C>G, NM_172311.2:c.2338C>G, NM_001198593.2:c.2338C>G, NM_001198593.1:c.2338C>G, NM_001198594.1:c.2338C>G, NM_006872.5:c.226C>G, NM_006872.4:c.226C>G, NM_006872.3:c.226C>G, NM_001193487.3:c.124C>G, NM_001193487.2:c.124C>G, NM_001193487.1:c.124C>G, NM_172196.1:c.226C>G, NP_758515.1:p.Gln780Glu, NP_001185522.1:p.Gln780Glu, NP_001185523.1:p.Gln780Glu, NP_006863.2:p.Gln76Glu, NP_001180416.1:p.Gln42Glu

Select item 14904955482.

rs1490495548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:48581116 (GRCh38)
2:48808255 (GRCh37)
Canonical SPDI:: NC_000002.12:48581115:A:C
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.48581116A>C, NC_000002.11:g.48808255A>C, NG_033050.2:g.56192A>C, NM_172311.3:c.483A>C, NM_172311.2:c.483A>C, NM_001198593.2:c.483A>C, NM_001198593.1:c.483A>C, NM_001198594.1:c.483A>C, NM_006873.4:c.483A>C, NM_006873.3:c.483A>C, NM_001198595.2:c.483A>C, NM_001198595.1:c.483A>C, NP_758515.1:p.Glu161Asp, NP_001185522.1:p.Glu161Asp, NP_001185523.1:p.Glu161Asp, NP_006864.2:p.Glu161Asp, NP_001185524.1:p.Glu161Asp

Select item 14898117073.

rs1489811707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:48581450 (GRCh38)
2:48808589 (GRCh37)
Canonical SPDI:: NC_000002.12:48581449:A:G,NC_000002.12:48581449:A:T
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.48581450A>G, NC_000002.12:g.48581450A>T, NC_000002.11:g.48808589A>G, NC_000002.11:g.48808589A>T, NG_033050.2:g.56526A>G, NG_033050.2:g.56526A>T, NM_172311.3:c.817A>G, NM_172311.3:c.817A>T, NM_172311.2:c.817A>G, NM_172311.2:c.817A>T, NM_001198593.2:c.817A>G, NM_001198593.2:c.817A>T, NM_001198593.1:c.817A>G, NM_001198593.1:c.817A>T, NM_001198594.1:c.817A>G, NM_001198594.1:c.817A>T, NM_006873.4:c.817A>G, NM_006873.4:c.817A>T, NM_006873.3:c.817A>G, NM_006873.3:c.817A>T, NM_001198595.2:c.817A>G, NM_001198595.2:c.817A>T, NM_001198595.1:c.817A>G, NM_001198595.1:c.817A>T, NP_758515.1:p.Lys273Glu, NP_758515.1:p.Lys273Ter, NP_001185522.1:p.Lys273Glu, NP_001185522.1:p.Lys273Ter, NP_001185523.1:p.Lys273Glu, NP_001185523.1:p.Lys273Ter, NP_006864.2:p.Lys273Glu, NP_006864.2:p.Lys273Ter, NP_001185524.1:p.Lys273Glu, NP_001185524.1:p.Lys273Ter

Select item 14892573694.

rs1489257369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48645083 (GRCh38)
2:48872222 (GRCh37)
Canonical SPDI:: NC_000002.12:48645082:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48645083T>C, NC_000002.11:g.48872222T>C, NG_033050.2:g.120159T>C, NM_172311.3:c.2466T>C, NM_172311.2:c.2466T>C, NM_001198593.2:c.2466T>C, NM_001198593.1:c.2466T>C, NM_006872.5:c.354T>C, NM_006872.4:c.354T>C, NM_006872.3:c.354T>C, NM_001193487.3:c.252T>C, NM_001193487.2:c.252T>C, NM_001193487.1:c.252T>C, NM_172196.1:c.354T>C

Select item 14884625745.

rs1488462574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:48621264 (GRCh38)
2:48848403 (GRCh37)
Canonical SPDI:: NC_000002.12:48621263:T:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621264T>G, NC_000002.11:g.48848403T>G, NG_033050.2:g.96340T>G, NM_172311.3:c.2333T>G, NM_172311.2:c.2333T>G, NM_001198593.2:c.2333T>G, NM_001198593.1:c.2333T>G, NM_001198594.1:c.2333T>G, NM_006872.5:c.221T>G, NM_006872.4:c.221T>G, NM_006872.3:c.221T>G, NM_001193487.3:c.119T>G, NM_001193487.2:c.119T>G, NM_001193487.1:c.119T>G, NM_172196.1:c.221T>G, NP_758515.1:p.Leu778Trp, NP_001185522.1:p.Leu778Trp, NP_001185523.1:p.Leu778Trp, NP_006863.2:p.Leu74Trp, NP_001180416.1:p.Leu40Trp

Select item 14884362256.

rs1488436225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48669728 (GRCh38)
2:48896867 (GRCh37)
Canonical SPDI:: NC_000002.12:48669727:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.48669728A>G, NC_000002.11:g.48896867A>G, NG_033050.2:g.144804A>G, NM_172311.3:c.3097A>G, NM_172311.2:c.3097A>G, NM_001198593.2:c.3097A>G, NM_001198593.1:c.3097A>G, NM_001198594.1:c.2956A>G, NM_006872.5:c.985A>G, NM_006872.4:c.985A>G, NM_006872.3:c.985A>G, NM_001193487.3:c.883A>G, NM_001193487.2:c.883A>G, NM_001193487.1:c.883A>G, NM_172196.1:c.985A>G, NP_758515.1:p.Asn1033Asp, NP_001185522.1:p.Asn1033Asp, NP_001185523.1:p.Asn986Asp, NP_006863.2:p.Asn329Asp, NP_001180416.1:p.Asn295Asp

Select item 14882047077.

rs1488204707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:48582137 (GRCh38)
2:48809276 (GRCh37)
Canonical SPDI:: NC_000002.12:48582136:A:T
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48582137A>T, NC_000002.11:g.48809276A>T, NG_033050.2:g.57213A>T, NM_172311.3:c.1504A>T, NM_172311.2:c.1504A>T, NM_001198593.2:c.1504A>T, NM_001198593.1:c.1504A>T, NM_001198594.1:c.1504A>T, NM_006873.4:c.1504A>T, NM_006873.3:c.1504A>T, NM_001198595.2:c.1504A>T, NM_001198595.1:c.1504A>T, NP_758515.1:p.Ile502Phe, NP_001185522.1:p.Ile502Phe, NP_001185523.1:p.Ile502Phe, NP_006864.2:p.Ile502Phe, NP_001185524.1:p.Ile502Phe

Select item 14881374418.

rs1488137441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48581529 (GRCh38)
2:48808668 (GRCh37)
Canonical SPDI:: NC_000002.12:48581528:T:C
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.48581529T>C, NC_000002.11:g.48808668T>C, NG_033050.2:g.56605T>C, NM_172311.3:c.896T>C, NM_172311.2:c.896T>C, NM_001198593.2:c.896T>C, NM_001198593.1:c.896T>C, NM_001198594.1:c.896T>C, NM_006873.4:c.896T>C, NM_006873.3:c.896T>C, NM_001198595.2:c.896T>C, NM_001198595.1:c.896T>C, NP_758515.1:p.Leu299Pro, NP_001185522.1:p.Leu299Pro, NP_001185523.1:p.Leu299Pro, NP_006864.2:p.Leu299Pro, NP_001185524.1:p.Leu299Pro

Select item 14872810399.

rs1487281039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48581940 (GRCh38)
2:48809079 (GRCh37)
Canonical SPDI:: NC_000002.12:48581939:G:A
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48581940G>A, NC_000002.11:g.48809079G>A, NG_033050.2:g.57016G>A, NM_172311.3:c.1307G>A, NM_172311.2:c.1307G>A, NM_001198593.2:c.1307G>A, NM_001198593.1:c.1307G>A, NM_001198594.1:c.1307G>A, NM_006873.4:c.1307G>A, NM_006873.3:c.1307G>A, NM_001198595.2:c.1307G>A, NM_001198595.1:c.1307G>A, NP_758515.1:p.Ser436Asn, NP_001185522.1:p.Ser436Asn, NP_001185523.1:p.Ser436Asn, NP_006864.2:p.Ser436Asn, NP_001185524.1:p.Ser436Asn

Select item 148676263710.

rs1486762637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48581869 (GRCh38)
2:48809008 (GRCh37)
Canonical SPDI:: NC_000002.12:48581868:G:A
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.48581869G>A, NC_000002.11:g.48809008G>A, NG_033050.2:g.56945G>A, NM_172311.3:c.1236G>A, NM_172311.2:c.1236G>A, NM_001198593.2:c.1236G>A, NM_001198593.1:c.1236G>A, NM_001198594.1:c.1236G>A, NM_006873.4:c.1236G>A, NM_006873.3:c.1236G>A, NM_001198595.2:c.1236G>A, NM_001198595.1:c.1236G>A

Select item 148364335611.

rs1483643356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48591801 (GRCh38)
2:48818940 (GRCh37)
Canonical SPDI:: NC_000002.12:48591800:G:A
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48591801G>A, NC_000002.11:g.48818940G>A, NG_033050.2:g.66877G>A, NM_172311.3:c.2079G>A, NM_172311.2:c.2079G>A, NM_001198593.2:c.2079G>A, NM_001198593.1:c.2079G>A, NM_001198594.1:c.2079G>A, NM_006873.4:c.2079G>A, NM_006873.3:c.2079G>A, NM_001198595.2:c.2079G>A, NM_001198595.1:c.2079G>A

Select item 148303243512.

rs1483032435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:48591780 (GRCh38)
2:48818919 (GRCh37)
Canonical SPDI:: NC_000002.12:48591779:G:C
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48591780G>C, NC_000002.11:g.48818919G>C, NG_033050.2:g.66856G>C, NM_172311.3:c.2058G>C, NM_172311.2:c.2058G>C, NM_001198593.2:c.2058G>C, NM_001198593.1:c.2058G>C, NM_001198594.1:c.2058G>C, NM_006873.4:c.2058G>C, NM_006873.3:c.2058G>C, NM_001198595.2:c.2058G>C, NM_001198595.1:c.2058G>C, NP_758515.1:p.Glu686Asp, NP_001185522.1:p.Glu686Asp, NP_001185523.1:p.Glu686Asp, NP_006864.2:p.Glu686Asp, NP_001185524.1:p.Glu686Asp

Select item 148292667313.

rs1482926673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:48581191 (GRCh38)
2:48808330 (GRCh37)
Canonical SPDI:: NC_000002.12:48581190:T:G
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48581191T>G, NC_000002.11:g.48808330T>G, NG_033050.2:g.56267T>G, NM_172311.3:c.558T>G, NM_172311.2:c.558T>G, NM_001198593.2:c.558T>G, NM_001198593.1:c.558T>G, NM_001198594.1:c.558T>G, NM_006873.4:c.558T>G, NM_006873.3:c.558T>G, NM_001198595.2:c.558T>G, NM_001198595.1:c.558T>G, NP_758515.1:p.Phe186Leu, NP_001185522.1:p.Phe186Leu, NP_001185523.1:p.Phe186Leu, NP_006864.2:p.Phe186Leu, NP_001185524.1:p.Phe186Leu

Select item 148232832314.

rs1482328323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48642412 (GRCh38)
2:48869551 (GRCh37)
Canonical SPDI:: NC_000002.12:48642411:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48642412T>C, NC_000002.11:g.48869551T>C, NG_033050.2:g.117488T>C, NM_172311.3:c.2370T>C, NM_172311.2:c.2370T>C, NM_001198593.2:c.2370T>C, NM_001198593.1:c.2370T>C, NM_006872.5:c.258T>C, NM_006872.4:c.258T>C, NM_006872.3:c.258T>C, NM_001193487.3:c.156T>C, NM_001193487.2:c.156T>C, NM_001193487.1:c.156T>C, NM_172196.1:c.258T>C

Select item 148217687715.

rs1482176877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:48582465 (GRCh38)
2:48809604 (GRCh37)
Canonical SPDI:: NC_000002.12:48582464:C:G
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.48582465C>G, NC_000002.11:g.48809604C>G, NG_033050.2:g.57541C>G, NM_172311.3:c.1832C>G, NM_172311.2:c.1832C>G, NM_001198593.2:c.1832C>G, NM_001198593.1:c.1832C>G, NM_001198594.1:c.1832C>G, NM_006873.4:c.1832C>G, NM_006873.3:c.1832C>G, NM_001198595.2:c.1832C>G, NM_001198595.1:c.1832C>G, NP_758515.1:p.Ser611Cys, NP_001185522.1:p.Ser611Cys, NP_001185523.1:p.Ser611Cys, NP_006864.2:p.Ser611Cys, NP_001185524.1:p.Ser611Cys

Select item 148165626116.

rs1481656261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48581543 (GRCh38)
2:48808682 (GRCh37)
Canonical SPDI:: NC_000002.12:48581542:G:A
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48581543G>A, NC_000002.11:g.48808682G>A, NG_033050.2:g.56619G>A, NM_172311.3:c.910G>A, NM_172311.2:c.910G>A, NM_001198593.2:c.910G>A, NM_001198593.1:c.910G>A, NM_001198594.1:c.910G>A, NM_006873.4:c.910G>A, NM_006873.3:c.910G>A, NM_001198595.2:c.910G>A, NM_001198595.1:c.910G>A, NP_758515.1:p.Gly304Arg, NP_001185522.1:p.Gly304Arg, NP_001185523.1:p.Gly304Arg, NP_006864.2:p.Gly304Arg, NP_001185524.1:p.Gly304Arg

Select item 148091493017.

rs1480914930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48621225 (GRCh38)
2:48848364 (GRCh37)
Canonical SPDI:: NC_000002.12:48621224:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621225T>C, NC_000002.11:g.48848364T>C, NG_033050.2:g.96301T>C, NM_172311.3:c.2294T>C, NM_172311.2:c.2294T>C, NM_001198593.2:c.2294T>C, NM_001198593.1:c.2294T>C, NM_001198594.1:c.2294T>C, NM_006872.5:c.182T>C, NM_006872.4:c.182T>C, NM_006872.3:c.182T>C, NM_001193487.3:c.80T>C, NM_001193487.2:c.80T>C, NM_001193487.1:c.80T>C, NM_172196.1:c.182T>C, NP_758515.1:p.Ile765Thr, NP_001185522.1:p.Ile765Thr, NP_001185523.1:p.Ile765Thr, NP_006863.2:p.Ile61Thr, NP_001180416.1:p.Ile27Thr

Select item 147901578818.

rs1479015788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:48581600 (GRCh38)
2:48808739 (GRCh37)
Canonical SPDI:: NC_000002.12:48581599:C:T
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.48581600C>T, NC_000002.11:g.48808739C>T, NG_033050.2:g.56676C>T, NM_172311.3:c.967C>T, NM_172311.2:c.967C>T, NM_001198593.2:c.967C>T, NM_001198593.1:c.967C>T, NM_001198594.1:c.967C>T, NM_006873.4:c.967C>T, NM_006873.3:c.967C>T, NM_001198595.2:c.967C>T, NM_001198595.1:c.967C>T, NP_758515.1:p.Gln323Ter, NP_001185522.1:p.Gln323Ter, NP_001185523.1:p.Gln323Ter, NP_006864.2:p.Gln323Ter, NP_001185524.1:p.Gln323Ter

Select item 147878084819.

rs1478780848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:48580664 (GRCh38)
2:48807803 (GRCh37)
Canonical SPDI:: NC_000002.12:48580663:A:C
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.48580664A>C, NC_000002.11:g.48807803A>C, NG_033050.2:g.55740A>C, NM_172311.3:c.31A>C, NM_172311.2:c.31A>C, NM_001198593.2:c.31A>C, NM_001198593.1:c.31A>C, NM_001198594.1:c.31A>C, NM_006873.4:c.31A>C, NM_006873.3:c.31A>C, NM_001198595.2:c.31A>C, NM_001198595.1:c.31A>C, NP_758515.1:p.Thr11Pro, NP_001185522.1:p.Thr11Pro, NP_001185523.1:p.Thr11Pro, NP_006864.2:p.Thr11Pro, NP_001185524.1:p.Thr11Pro

Select item 147773985720.

rs1477739857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:48581472 (GRCh38)
2:48808611 (GRCh37)
Canonical SPDI:: NC_000002.12:48581471:T:A
Gene:: STON1 (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48581472T>A, NC_000002.11:g.48808611T>A, NG_033050.2:g.56548T>A, NM_172311.3:c.839T>A, NM_172311.2:c.839T>A, NM_001198593.2:c.839T>A, NM_001198593.1:c.839T>A, NM_001198594.1:c.839T>A, NM_006873.4:c.839T>A, NM_006873.3:c.839T>A, NM_001198595.2:c.839T>A, NM_001198595.1:c.839T>A, NP_758515.1:p.Leu280Gln, NP_001185522.1:p.Leu280Gln, NP_001185523.1:p.Leu280Gln, NP_006864.2:p.Leu280Gln, NP_001185524.1:p.Leu280Gln

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