Linked Data
ClinVar Variation Id:
347289
ClinVar RCV Id:
RCV000283957
RCV000289737
RCV000318951
RCV000341246
RCV000346917
RCV000378285
RCV000408223
dbSNP Id:
rs886059003
gnomAD v2:
4-111538709-A-G
gnomAD v3:
4-110617553-A-G
gnomAD v4:
4-110617553-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110617553A>G , CM000666.2:g.110617553A>G | GRCh38 |
| NC_000004.11:g.111538709A>G , CM000666.1:g.111538709A>G | GRCh37 |
| NC_000004.10:g.111758158A>G | NCBI36 |
| NG_007120.1:g.24800T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.*795T>C | ENSP00000484763.2:n.*795T>C | |
| ENST00000614423.5:c.*572T>C | ENSP00000481951.2:n.*572T>C | |
| ENST00000394595.8:c.*572T>C | ENSP00000378095.4:n.*572T>C | |
| ENST00000644488.1:n.1589T>C | ||
| ENST00000644743.1:c.*572T>C MANE Select | ENSP00000495061.1:n.*572T>C | |
| ENST00000645131.1:n.1478T>C | ||
| ENST00000306732.7:c.*572T>C | ENSP00000304169.3:n.*572T>C | |
| ENST00000354925.6:c.*572T>C | ENSP00000347004.2:n.*572T>C | |
| ENST00000355080.9:c.*572T>C | ENSP00000347192.5:n.*572T>C | |
| ENST00000394595.7:c.*795T>C | ENSP00000378095.3:n.*795T>C | |
| ENST00000394598.6:c.*572T>C | ENSP00000378097.2:n.*572T>C | |
| ENST00000607868.1:n.1274T>C | ||
| ENST00000613094.4:c.*572T>C | ENSP00000484763.1:n.*572T>C | |
| ENST00000614423.4:c.*572T>C | ENSP00000481951.1:n.*572T>C | |
| ENST00000616641.4:c.*572T>C | ENSP00000484909.1:n.*572T>C | |
| NM_000325.5:c.*572T>C | NP_000316.2:n.*572T>C | |
| NM_001204397.1:c.*572T>C | NP_001191326.1:n.*572T>C | |
| NM_001204398.1:c.*572T>C | NP_001191327.1:n.*572T>C | |
| NM_001204399.1:c.*572T>C | NP_001191328.1:n.*572T>C | |
| NM_153426.2:c.*572T>C | NP_700475.1:n.*572T>C | |
| NM_153427.2:c.*572T>C | NP_700476.1:n.*572T>C | |
| XM_006714235.2:c.*572T>C | XP_006714298.1:n.*572T>C | |
| XM_011532027.1:c.*572T>C | XP_011530329.1:n.*572T>C | |
| XM_024454090.1:c.*572T>C | XP_024309858.1:n.*572T>C | |
| NM_000325.6:c.*572T>C MANE Select | NP_000316.2:n.*572T>C | |
| NM_001204397.2:c.*572T>C | NP_001191326.1:n.*572T>C | |
| NM_153426.3:c.*572T>C | NP_700475.1:n.*572T>C | |
| NM_153427.3:c.*572T>C | NP_700476.1:n.*572T>C |