Linked Data
ClinVar Variation Id:
1639
ClinVar RCV Id:
RCV000001706
dbSNP Id:
rs72547564
gnomAD v2:
17-19559848-G-A
gnomAD v3:
17-19656535-G-A
gnomAD v4:
17-19656535-G-A
PubMed:
PMID:8528251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19656535G>A , CM000679.2:g.19656535G>A | GRCh38 |
| NC_000017.10:g.19559848G>A , CM000679.1:g.19559848G>A | GRCh37 |
| NC_000017.9:g.19500440G>A | NCBI36 |
| NG_007095.2:g.12785G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.641G>A MANE Select | ENSP00000176643.6:p.Cys214Tyr | |
| ENST00000395575.7:c.471+3903G>A | ENSP00000378942.3:n.471+3903G>A | |
| ENST00000472059.6:c.*199G>A | ENSP00000458397.1:n.*199G>A | |
| ENST00000581518.6:c.641G>A | ENSP00000461916.2:p.Cys214Tyr | |
| ENST00000582991.6:c.641G>A | ENSP00000464153.1:p.Cys214Tyr | |
| ENST00000671841.1:n.1150G>A | ||
| ENST00000671878.1:c.641G>A | ENSP00000500516.1:p.Cys214Tyr | |
| ENST00000672059.1:n.1092G>A | ||
| ENST00000672322.1:n.1712G>A | ||
| ENST00000672357.1:c.641G>A | ENSP00000500092.1:p.Cys214Tyr | |
| ENST00000672465.1:c.641G>A | ENSP00000500517.1:p.Cys214Tyr | |
| ENST00000672487.1:c.641G>A | ENSP00000500740.1:p.Cys214Tyr | |
| ENST00000672564.1:n.862G>A | ||
| ENST00000672567.1:c.532G>A | ||
| ENST00000672608.1:n.1630G>A | ||
| ENST00000672709.1:c.495G>A | ||
| ENST00000673136.1:c.641G>A | ENSP00000500380.1:p.Cys214Tyr | |
| ENST00000673472.1:n.977G>A | ||
| ENST00000176643.10:c.641G>A | ENSP00000176643.6:p.Cys214Tyr | |
| ENST00000339618.8:c.641G>A | ENSP00000345774.4:p.Cys214Tyr | |
| ENST00000395575.6:c.641G>A | ENSP00000378942.2:p.Cys214Tyr | |
| ENST00000472059.5:c.*199G>A | ENSP00000458397.1:n.*199G>A | |
| ENST00000476965.5:n.391G>A | ||
| ENST00000571537.1:c.134G>A | ENSP00000458942.1:p.Cys45Tyr | |
| ENST00000578696.1:c.48G>A | ||
| ENST00000579855.5:c.641G>A | ENSP00000463637.1:p.Cys214Tyr | |
| ENST00000581518.5:c.641G>A | ENSP00000461916.1:p.Cys214Tyr | |
| ENST00000582991.5:c.641G>A | ENSP00000464153.1:p.Cys214Tyr | |
| ENST00000630662.2:c.-341G>A | ENSP00000487353.1:n.-341G>A | |
| ENST00000631291.2:c.641G>A | ENSP00000486085.1:p.Cys214Tyr | |
| NM_000382.2:c.641G>A | NP_000373.1:p.Cys214Tyr | |
| NM_001031806.1:c.641G>A | NP_001026976.1:p.Cys214Tyr | |
| XM_011523732.1:c.641G>A | XP_011522034.1:p.Cys214Tyr | |
| XM_011523733.1:c.641G>A | XP_011522035.1:p.Cys214Tyr | |
| XM_011523733.2:c.641G>A | XP_011522035.1:p.Cys214Tyr | |
| XM_017024355.1:c.641G>A | XP_016879844.1:p.Cys214Tyr | |
| XM_017024356.2:c.641G>A | XP_016879845.1:p.Cys214Tyr | |
| XM_017024357.1:c.641G>A | XP_016879846.1:p.Cys214Tyr | |
| XM_017024358.2:c.641G>A | XP_016879847.1:p.Cys214Tyr | |
| XM_024450651.1:c.62G>A | XP_024306419.1:p.Cys21Tyr | |
| XM_024450652.1:c.62G>A | XP_024306420.1:p.Cys21Tyr | |
| NM_000382.3:c.641G>A MANE Select | NP_000373.1:p.Cys214Tyr | |
| NM_001031806.2:c.641G>A | NP_001026976.1:p.Cys214Tyr | |
| NM_001369136.1:c.641G>A | NP_001356065.1:p.Cys214Tyr | |
| NM_001369137.1:c.641G>A | NP_001356066.1:p.Cys214Tyr | |
| NM_001369138.1:c.641G>A | NP_001356067.1:p.Cys214Tyr | |
| NM_001369139.1:c.641G>A | NP_001356068.1:p.Cys214Tyr | |
| NM_001369146.1:c.641G>A | NP_001356075.1:p.Cys214Tyr | |
| NM_001369148.1:c.62G>A | NP_001356077.1:p.Cys21Tyr | |
| NM_001369137.2:c.641G>A | NP_001356066.1:p.Cys214Tyr | |
| NM_001369138.2:c.641G>A | NP_001356067.1:p.Cys214Tyr | |
| NM_001369146.2:c.641G>A | NP_001356075.1:p.Cys214Tyr | |
| NM_001369148.2:c.62G>A | NP_001356077.1:p.Cys21Tyr |