Linked Data
ClinVar Variation Id:
1407849
dbSNP Id:
rs772400647
gnomAD v2:
14-51057785-G-T
gnomAD v4:
14-50591067-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50591067G>T , CM000676.2:g.50591067G>T | GRCh38 |
| NC_000014.8:g.51057785G>T , CM000676.1:g.51057785G>T | GRCh37 |
| NC_000014.7:g.50127535G>T | NCBI36 |
| NG_009028.1:g.62986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.409G>T | ENSP00000450989.2:p.Gly137Cys | |
| ENST00000553746.2:n.2367G>T | ||
| ENST00000556478.3:c.409G>T | ENSP00000501428.2:p.Gly137Cys | |
| ENST00000682037.1:c.409G>T | ENSP00000508289.1:p.Gly137Cys | |
| ENST00000682219.1:n.1288G>T | ||
| ENST00000682226.1:n.743G>T | ||
| ENST00000682487.1:n.743G>T | ||
| ENST00000683330.1:n.743G>T | ||
| ENST00000683703.1:n.743G>T | ||
| ENST00000683837.1:n.743G>T | ||
| ENST00000684737.1:n.743G>T | ||
| ENST00000358385.12:c.409G>T MANE Select | ENSP00000351155.7:p.Gly137Cys | |
| ENST00000674288.1:c.*1701G>T | ENSP00000501522.1:n.*1701G>T | |
| ENST00000674478.1:n.743G>T | ||
| ENST00000358385.10:c.409G>T | ENSP00000351155.6:p.Gly137Cys | |
| ENST00000441560.6:c.409G>T | ENSP00000413675.2:p.Gly137Cys | |
| ENST00000553746.1:n.79G>T | ||
| ENST00000554886.1:c.-24G>T | ENSP00000452074.1:n.-24G>T | |
| NM_001127713.1:c.409G>T | NP_001121185.1:p.Gly137Cys | |
| NM_015915.4:c.409G>T | NP_056999.2:p.Gly137Cys | |
| NM_181598.3:c.409G>T | NP_853629.2:p.Gly137Cys | |
| NM_015915.5:c.409G>T MANE Select | NP_056999.2:p.Gly137Cys | |
| NM_181598.4:c.409G>T | NP_853629.2:p.Gly137Cys |