Linked Data
ClinVar Variation Id:
466170
dbSNP Id:
rs3803422
ExAC:
15:101718190 C / T
gnomAD v2:
15-101718190-C-T
gnomAD v3:
15-101177985-C-T
gnomAD v4:
15-101177985-C-T
COSMIC:
COSM3999455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101177985C>T , CM000677.2:g.101177985C>T | GRCh38 |
| NC_000015.9:g.101718190C>T , CM000677.1:g.101718190C>T | GRCh37 |
| NC_000015.8:g.99535713C>T | NCBI36 |
| NG_031908.1:g.78948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254190.4:c.1812G>A MANE Select | ENSP00000254190.3:p.Val604= | |
| ENST00000543813.2:c.1289G>A | ENSP00000496160.1:n.1289G>A | |
| ENST00000254190.3:c.1812G>A | ENSP00000254190.3:p.Val604= | |
| ENST00000543813.1:n.1065G>A | ||
| NM_014918.4:c.1812G>A | NP_055733.2:p.Val604= | |
| XM_006720435.2:c.996G>A | XP_006720498.1:p.Val332= | |
| XM_011521364.1:c.1896G>A | XP_011519666.1:p.Val632= | |
| XM_011521365.1:c.996G>A | XP_011519667.1:p.Val332= | |
| XM_006720435.3:c.996G>A | XP_006720498.1:p.Val332= | |
| XM_011521364.2:c.1896G>A | XP_011519666.1:p.Val632= | |
| XM_017022011.1:c.996G>A | XP_016877500.1:p.Val332= | |
| XM_024449873.1:c.1191G>A | XP_024305641.1:p.Val397= | |
| NM_014918.5:c.1812G>A MANE Select | NP_055733.2:p.Val604= |