Linked Data
ClinVar Variation Id:
380508
dbSNP Id:
rs77972324
ExAC:
17:12903507 G / A
gnomAD v2:
17-12903507-G-A
gnomAD v3:
17-13000190-G-A
gnomAD v4:
17-13000190-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13000190G>A , CM000679.2:g.13000190G>A | GRCh38 |
| NC_000017.10:g.12903507G>A , CM000679.1:g.12903507G>A | GRCh37 |
| NC_000017.9:g.12844232G>A | NCBI36 |
| NG_015808.1:g.22875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.1389C>T MANE Select | ENSP00000337445.4:p.Tyr463= | |
| ENST00000338034.8:c.1389C>T | ENSP00000337445.4:p.Tyr463= | |
| ENST00000395962.6:c.1332C>T | ENSP00000379291.1:p.Tyr444= | |
| ENST00000426905.7:c.1269C>T | ENSP00000405223.3:p.Tyr423= | |
| ENST00000446899.5:c.727C>T | ||
| ENST00000465825.5:n.708C>T | ||
| ENST00000476042.1:c.415C>T | ||
| ENST00000480891.5:n.1218C>T | ||
| ENST00000484122.5:n.1651C>T | ||
| ENST00000487229.6:n.935C>T | ||
| ENST00000492559.5:n.196C>T | ||
| ENST00000578991.5:n.456C>T | ||
| ENST00000584650.5:c.788C>T | ||
| NM_001165962.1:c.1269C>T | NP_001159434.1:p.Tyr423= | |
| NM_018127.6:c.1389C>T | NP_060597.4:p.Tyr463= | |
| NM_173717.1:c.1386C>T | NP_776065.1:p.Tyr462= | |
| XM_024450850.1:c.1470C>T | XP_024306618.1:p.Tyr490= | |
| XM_024450851.1:c.1470C>T | XP_024306619.1:p.Tyr490= | |
| XM_024450852.1:c.1389C>T | XP_024306620.1:p.Tyr463= | |
| XM_024450853.1:c.1386C>T | XP_024306621.1:p.Tyr462= | |
| XM_024450854.1:c.1350C>T | XP_024306622.1:p.Tyr450= | |
| XM_024450855.1:c.1269C>T | XP_024306623.1:p.Tyr423= | |
| XM_024450856.1:c.1188C>T | XP_024306624.1:p.Tyr396= | |
| XM_024450857.1:c.1188C>T | XP_024306625.1:p.Tyr396= | |
| XM_024450858.1:c.1107C>T | XP_024306626.1:p.Tyr369= | |
| XM_024450859.1:c.1104C>T | XP_024306627.1:p.Tyr368= | |
| XM_024450860.1:c.1107C>T | XP_024306628.1:p.Tyr369= | |
| XM_024450861.1:c.1107C>T | XP_024306629.1:p.Tyr369= | |
| XM_024450862.1:c.1104C>T | XP_024306630.1:p.Tyr368= | |
| NM_018127.7:c.1389C>T MANE Select | NP_060597.4:p.Tyr463= | |
| NM_001165962.2:c.1269C>T | NP_001159434.1:p.Tyr423= | |
| NM_173717.2:c.1386C>T | NP_776065.1:p.Tyr462= |