Linked Data
ClinVar Variation Id:
1989360
dbSNP Id:
rs757083987
ExAC:
1:197390580 A / G
gnomAD v2:
1-197390580-A-G
gnomAD v3:
1-197421450-A-G
gnomAD v4:
1-197421450-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421450A>G , CM000663.2:g.197421450A>G | GRCh38 |
| NC_000001.10:g.197390580A>G , CM000663.1:g.197390580A>G | GRCh37 |
| NC_000001.9:g.195657203A>G | NCBI36 |
| NG_008483.1:g.158173A>G | |
| NG_008483.2:g.224989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1622A>G MANE Select | ENSP00000356370.3:p.Tyr541Cys | |
| ENST00000638467.1:c.1622A>G | ENSP00000491102.1:p.Tyr541Cys | |
| ENST00000681519.1:c.503A>G | ENSP00000505267.1:p.Tyr168Cys | |
| ENST00000367397.1:c.-236A>G | ENSP00000356367.1:n.-236A>G | |
| ENST00000367399.6:c.1286A>G | ENSP00000356369.2:p.Tyr429Cys | |
| ENST00000367400.7:c.1622A>G | ENSP00000356370.3:p.Tyr541Cys | |
| ENST00000484075.5:c.1622A>G | ENSP00000433932.1:p.Tyr541Cys | |
| ENST00000535699.5:c.1415A>G | ENSP00000438786.1:p.Tyr472Cys | |
| ENST00000538660.5:c.1622A>G | ENSP00000438091.1:p.Tyr541Cys | |
| NM_001193640.1:c.1286A>G | NP_001180569.1:p.Tyr429Cys | |
| NM_001257965.1:c.1415A>G | NP_001244894.1:p.Tyr472Cys | |
| NM_001257966.1:c.1622A>G | NP_001244895.1:p.Tyr541Cys | |
| NM_201253.2:c.1622A>G | NP_957705.1:p.Tyr541Cys | |
| NR_047563.1:n.1831A>G | ||
| NR_047564.1:n.1831A>G | ||
| XM_011509365.1:c.1622A>G | XP_011507667.1:p.Tyr541Cys | |
| XM_011509366.1:c.1622A>G | XP_011507668.1:p.Tyr541Cys | |
| XM_011509367.1:c.1622A>G | XP_011507669.1:p.Tyr541Cys | |
| XM_011509368.1:c.1040A>G | XP_011507670.1:p.Tyr347Cys | |
| XM_011509369.1:c.65A>G | XP_011507671.1:p.Tyr22Cys | |
| XM_011509365.2:c.1622A>G | XP_011507667.1:p.Tyr541Cys | |
| XM_011509369.2:c.65A>G | XP_011507671.1:p.Tyr22Cys | |
| XM_017000851.1:c.779A>G | XP_016856340.1:p.Tyr260Cys | |
| XM_017000852.1:c.1622A>G | XP_016856341.1:p.Tyr541Cys | |
| NM_201253.3:c.1622A>G MANE Select | NP_957705.1:p.Tyr541Cys | |
| NM_001193640.2:c.1286A>G | NP_001180569.1:p.Tyr429Cys | |
| NM_001257965.2:c.1415A>G | NP_001244894.1:p.Tyr472Cys | |
| NR_047563.2:n.1783A>G | ||
| NR_047564.2:n.1783A>G | ||
| NM_001257966.2:c.1622A>G | NP_001244895.1:p.Tyr541Cys |