Linked Data
ClinVar Variation Id:
39614
ClinVar RCV Id:
RCV000032814
RCV000032815
RCV000086331
RCV000505155
RCV000554663
RCV000762874
RCV000787579
RCV001097540
RCV001275657
RCV003313928
RCV003324500
dbSNP Id:
rs62645748
ExAC:
1:197403836 G / A
gnomAD v2:
1-197403836-G-A
gnomAD v3:
1-197434706-G-A
gnomAD v4:
1-197434706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434706G>A , CM000663.2:g.197434706G>A | GRCh38 |
| NC_000001.10:g.197403836G>A , CM000663.1:g.197403836G>A | GRCh37 |
| NC_000001.9:g.195670459G>A | NCBI36 |
| NG_008483.1:g.171429G>A | |
| NG_008483.2:g.238245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2843G>A MANE Select | ENSP00000356370.3:p.Cys948Tyr | |
| ENST00000638467.1:c.2843G>A | ENSP00000491102.1:p.Cys948Tyr | |
| ENST00000681519.1:c.1724G>A | ENSP00000505267.1:p.Cys575Tyr | |
| ENST00000367397.1:c.986G>A | ENSP00000356367.1:p.Cys329Tyr | |
| ENST00000367399.6:c.2507G>A | ENSP00000356369.2:p.Cys836Tyr | |
| ENST00000367400.7:c.2843G>A | ENSP00000356370.3:p.Cys948Tyr | |
| ENST00000484075.5:c.2843G>A | ENSP00000433932.1:p.Cys948Tyr | |
| ENST00000535699.5:c.2771G>A | ENSP00000438786.1:p.Cys924Tyr | |
| ENST00000538660.5:c.2129-894G>A | ENSP00000438091.1:n.2129-894G>A | |
| NM_001193640.1:c.2507G>A | NP_001180569.1:p.Cys836Tyr | |
| NM_001257965.1:c.2771G>A | NP_001244894.1:p.Cys924Tyr | |
| NM_001257966.1:c.2129-894G>A | NP_001244895.1:n.2129-894G>A | |
| NM_201253.2:c.2843G>A | NP_957705.1:p.Cys948Tyr | |
| NR_047563.1:n.2844G>A | ||
| NR_047564.1:n.3052G>A | ||
| XM_011509365.1:c.2843G>A | XP_011507667.1:p.Cys948Tyr | |
| XM_011509366.1:c.2843G>A | XP_011507668.1:p.Cys948Tyr | |
| XM_011509367.1:c.2843G>A | XP_011507669.1:p.Cys948Tyr | |
| XM_011509368.1:c.2261G>A | XP_011507670.1:p.Cys754Tyr | |
| XM_011509369.1:c.1286G>A | XP_011507671.1:p.Cys429Tyr | |
| XM_011509365.2:c.2843G>A | XP_011507667.1:p.Cys948Tyr | |
| XM_011509369.2:c.1286G>A | XP_011507671.1:p.Cys429Tyr | |
| XM_017000851.1:c.2000G>A | XP_016856340.1:p.Cys667Tyr | |
| XM_017000852.1:c.2978G>A | XP_016856341.1:p.Cys993Tyr | |
| NM_201253.3:c.2843G>A MANE Select | NP_957705.1:p.Cys948Tyr | |
| NM_001193640.2:c.2507G>A | NP_001180569.1:p.Cys836Tyr | |
| NM_001257965.2:c.2771G>A | NP_001244894.1:p.Cys924Tyr | |
| NR_047563.2:n.2796G>A | ||
| NR_047564.2:n.3004G>A | ||
| NM_001257966.2:c.2129-894G>A | NP_001244895.1:n.2129-894G>A |