Linked Data
ClinVar Variation Id:
161095
ClinVar RCV Id:
RCV000202463
dbSNP Id:
rs572620317
ExAC:
20:45354092 T / A
gnomAD v2:
20-45354092-T-A
gnomAD v4:
20-46725453-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725453T>A , CM000682.2:g.46725453T>A | GRCh38 |
| NC_000020.10:g.45354092T>A , CM000682.1:g.45354092T>A | GRCh37 |
| NC_000020.9:g.44787499T>A | NCBI36 |
| NG_016284.1:g.20814T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.417T>A MANE Select | ENSP00000352216.2:p.Tyr139Ter | |
| ENST00000359271.3:c.417T>A | ENSP00000352216.2:p.Tyr139Ter | |
| ENST00000611837.1:n.569T>A | ||
| NM_030777.3:c.417T>A | NP_110404.1:p.Tyr139Ter | |
| XM_011529060.1:c.480T>A | XP_011527362.1:p.Tyr160Ter | |
| XM_011529061.1:c.426T>A | XP_011527363.1:p.Tyr142Ter | |
| XM_011529062.1:c.480T>A | XP_011527364.1:p.Tyr160Ter | |
| XM_011529063.1:c.480T>A | XP_011527365.1:p.Tyr160Ter | |
| XM_011529064.1:c.480T>A | XP_011527366.1:p.Tyr160Ter | |
| XM_011529065.1:c.480T>A | XP_011527367.1:p.Tyr160Ter | |
| XR_936641.1:n.616T>A | ||
| XM_011529060.2:c.480T>A | XP_011527362.1:p.Tyr160Ter | |
| XM_011529061.2:c.426T>A | XP_011527363.1:p.Tyr142Ter | |
| XM_011529062.2:c.480T>A | XP_011527364.1:p.Tyr160Ter | |
| XM_011529063.2:c.480T>A | XP_011527365.1:p.Tyr160Ter | |
| XM_011529064.2:c.480T>A | XP_011527366.1:p.Tyr160Ter | |
| XM_011529065.2:c.480T>A | XP_011527367.1:p.Tyr160Ter | |
| XM_017028087.2:c.417T>A | XP_016883576.1:p.Tyr139Ter | |
| XR_936641.2:n.603T>A | ||
| NM_030777.4:c.417T>A MANE Select | NP_110404.1:p.Tyr139Ter |