Linked Data
ClinVar Variation Id:
2156493
ClinVar RCV Id:
RCV003090930
dbSNP Id:
rs777485816
ExAC:
19:36223938 T / A
gnomAD v2:
19-36223938-T-A
gnomAD v3:
19-35733037-T-A
gnomAD v4:
19-35733037-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733037T>A , CM000681.2:g.35733037T>A | GRCh38 |
| NC_000019.9:g.36223938T>A , CM000681.1:g.36223938T>A | GRCh37 |
| NC_000019.8:g.40915778T>A | NCBI36 |
| NG_052906.1:g.20019T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.794T>A | ||
| ENST00000673918.2:c.6422T>A | ENSP00000501283.1:p.Phe2141Tyr | |
| ENST00000674114.2:c.4029T>A | ENSP00000501039.2:n.4029T>A | |
| ENST00000684977.1:c.1706T>A | ENSP00000509384.1:p.Phe569Tyr | |
| ENST00000689544.1:n.1641T>A | ||
| ENST00000691421.1:c.1709T>A | ENSP00000508674.1:p.Phe570Tyr | |
| ENST00000691855.1:c.6030T>A | ||
| ENST00000692961.1:c.6488T>A | ENSP00000509289.1:p.Phe2163Tyr | |
| ENST00000693677.1:c.705-560T>A | ENSP00000509779.1:n.705-560T>A | |
| ENST00000420124.4:c.6488T>A MANE Select | ENSP00000398837.2:p.Phe2163Tyr | |
| ENST00000673918.1:c.6422T>A | ENSP00000501283.1:p.Phe2141Tyr | |
| ENST00000674114.1:c.3810T>A | ||
| ENST00000420124.2:c.6488T>A | ENSP00000398837.1:p.Phe2163Tyr | |
| NM_014727.2:c.6488T>A | NP_055542.1:p.Phe2163Tyr | |
| XM_011527561.1:c.6422T>A | XP_011525863.1:p.Phe2141Tyr | |
| XM_011527562.1:c.6488T>A | XP_011525864.1:p.Phe2163Tyr | |
| XM_011527563.1:c.6212T>A | XP_011525865.1:p.Phe2071Tyr | |
| XM_011527561.2:c.5924T>A | XP_011525863.2:p.Phe1975Tyr | |
| XM_011527562.2:c.6488T>A | XP_011525864.1:p.Phe2163Tyr | |
| XM_017027544.1:c.6488T>A | XP_016883033.1:p.Phe2163Tyr | |
| XM_017027545.1:c.5924T>A | XP_016883034.1:p.Phe1975Tyr | |
| XM_017027546.1:c.3452T>A | XP_016883035.1:p.Phe1151Tyr | |
| NM_014727.3:c.6488T>A MANE Select | NP_055542.1:p.Phe2163Tyr |