Linked Data
ClinVar Variation Id:
1030367
dbSNP Id:
rs141549844
ExAC:
17:13980268 G / T
gnomAD v2:
17-13980268-G-T
gnomAD v3:
17-14076951-G-T
gnomAD v4:
17-14076951-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076951G>T , CM000679.2:g.14076951G>T | GRCh38 |
| NC_000017.10:g.13980268G>T , CM000679.1:g.13980268G>T | GRCh37 |
| NC_000017.9:g.13920993G>T | NCBI36 |
| NG_008034.1:g.12550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.394G>T MANE Select | ENSP00000261643.3:p.Asp132Tyr | |
| ENST00000664217.1:c.394G>T | ENSP00000499396.1:p.Asp132Tyr | |
| ENST00000670279.1:c.394G>T | ENSP00000499450.1:p.Asp132Tyr | |
| ENST00000261643.7:c.394G>T | ENSP00000261643.3:p.Asp132Tyr | |
| ENST00000429152.6:c.394G>T | ENSP00000397750.2:p.Asp132Tyr | |
| ENST00000580561.1:c.177+2495G>T | ENSP00000462190.1:n.177+2495G>T | |
| ENST00000581931.5:c.394G>T | ENSP00000462512.1:p.Asp132Tyr | |
| NM_001303.3:c.394G>T | NP_001294.2:p.Asp132Tyr | |
| XM_005256458.1:c.394G>T | XP_005256515.1:p.Asp132Tyr | |
| XM_011523657.1:c.394G>T | XP_011521959.1:p.Asp132Tyr | |
| XM_011523658.1:c.-58G>T | XP_011521960.1:n.-58G>T | |
| XR_933974.1:n.497G>T | ||
| XR_933975.1:n.497G>T | ||
| NM_001303.4:c.394G>T MANE Select | NP_001294.2:p.Asp132Tyr |