Linked Data
ClinVar Variation Id:
6039
dbSNP Id:
rs112292549
ExAC:
15:43552349 C / A
gnomAD v2:
15-43552349-C-A
gnomAD v3:
15-43260151-C-A
gnomAD v4:
15-43260151-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43260151C>A , CM000677.2:g.43260151C>A | GRCh38 |
| NC_000015.9:g.43552349C>A , CM000677.1:g.43552349C>A | GRCh37 |
| NC_000015.8:g.41339641C>A | NCBI36 |
| NG_016124.1:g.11707G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220420.10:c.337G>T MANE Select | ENSP00000220420.5:p.Gly113Cys | |
| ENST00000220420.9:c.337G>T | ENSP00000220420.5:p.Gly113Cys | |
| ENST00000349114.8:c.190+249G>T | ENSP00000220419.8:n.190+249G>T | |
| ENST00000610827.4:c.334G>T | ENSP00000479732.1:p.Gly112Cys | |
| ENST00000611276.4:c.187+249G>T | ENSP00000482542.1:n.187+249G>T | |
| ENST00000622115.1:c.340G>T | ENSP00000479638.1:p.Gly114Cys | |
| NM_004245.3:c.190+249G>T | NP_004236.1:n.190+249G>T | |
| NM_201631.3:c.337G>T | NP_963925.2:p.Gly113Cys | |
| XM_011522229.1:c.337G>T | XP_011520531.1:p.Gly113Cys | |
| XR_931948.1:n.511G>T | ||
| NM_004245.4:c.190+249G>T | NP_004236.1:n.190+249G>T | |
| NM_201631.4:c.337G>T MANE Select | NP_963925.2:p.Gly113Cys |