Linked Data
ClinVar Variation Id:
316060
dbSNP Id:
rs555001
ExAC:
15:43545728 G / A
gnomAD v2:
15-43545728-G-A
gnomAD v3:
15-43253530-G-A
gnomAD v4:
15-43253530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43253530G>A , CM000677.2:g.43253530G>A | GRCh38 |
| NC_000015.9:g.43545728G>A , CM000677.1:g.43545728G>A | GRCh37 |
| NC_000015.8:g.41333020G>A | NCBI36 |
| NG_016124.1:g.18328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.660C>T MANE Select | ENSP00000220420.5:p.Tyr220= | |
| ENST00000635871.1:n.129C>T | ||
| ENST00000220420.9:c.660C>T | ENSP00000220420.5:p.Tyr220= | |
| ENST00000349114.8:c.414C>T | ENSP00000220419.8:p.Tyr138= | |
| ENST00000610827.4:c.657C>T | ENSP00000479732.1:p.Tyr219= | |
| ENST00000611276.4:c.411C>T | ENSP00000482542.1:p.Tyr137= | |
| ENST00000622115.1:c.663C>T | ENSP00000479638.1:p.Tyr221= | |
| NM_004245.3:c.414C>T | NP_004236.1:p.Tyr138= | |
| NM_201631.3:c.660C>T | NP_963925.2:p.Tyr220= | |
| XM_011522229.1:c.660C>T | XP_011520531.1:p.Tyr220= | |
| XR_931948.1:n.834C>T | ||
| NM_004245.4:c.414C>T | NP_004236.1:p.Tyr138= | |
| NM_201631.4:c.660C>T MANE Select | NP_963925.2:p.Tyr220= |