Linked Data
ClinVar Variation Id:
347291
ClinVar RCV Id:
RCV000264745
RCV000268286
RCV000299843
RCV000325255
RCV000322251
RCV000356968
RCV000379090
RCV003320633
dbSNP Id:
rs75911264
gnomAD v2:
4-111538810-C-T
gnomAD v3:
4-110617654-C-T
gnomAD v4:
4-110617654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110617654C>T , CM000666.2:g.110617654C>T | GRCh38 |
| NC_000004.11:g.111538810C>T , CM000666.1:g.111538810C>T | GRCh37 |
| NC_000004.10:g.111758259C>T | NCBI36 |
| NG_007120.1:g.24699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.*694G>A | ENSP00000484763.2:n.*694G>A | |
| ENST00000614423.5:c.*471G>A | ENSP00000481951.2:n.*471G>A | |
| ENST00000394595.8:c.*471G>A | ENSP00000378095.4:n.*471G>A | |
| ENST00000644488.1:n.1488G>A | ||
| ENST00000644743.1:c.*471G>A MANE Select | ENSP00000495061.1:n.*471G>A | |
| ENST00000645131.1:n.1377G>A | ||
| ENST00000306732.7:c.*471G>A | ENSP00000304169.3:n.*471G>A | |
| ENST00000354925.6:c.*471G>A | ENSP00000347004.2:n.*471G>A | |
| ENST00000355080.9:c.*471G>A | ENSP00000347192.5:n.*471G>A | |
| ENST00000394595.7:c.*694G>A | ENSP00000378095.3:n.*694G>A | |
| ENST00000394598.6:c.*471G>A | ENSP00000378097.2:n.*471G>A | |
| ENST00000607868.1:n.1173G>A | ||
| ENST00000613094.4:c.*471G>A | ENSP00000484763.1:n.*471G>A | |
| ENST00000614423.4:c.*471G>A | ENSP00000481951.1:n.*471G>A | |
| ENST00000616641.4:c.*471G>A | ENSP00000484909.1:n.*471G>A | |
| NM_000325.5:c.*471G>A | NP_000316.2:n.*471G>A | |
| NM_001204397.1:c.*471G>A | NP_001191326.1:n.*471G>A | |
| NM_001204398.1:c.*471G>A | NP_001191327.1:n.*471G>A | |
| NM_001204399.1:c.*471G>A | NP_001191328.1:n.*471G>A | |
| NM_153426.2:c.*471G>A | NP_700475.1:n.*471G>A | |
| NM_153427.2:c.*471G>A | NP_700476.1:n.*471G>A | |
| XM_006714235.2:c.*471G>A | XP_006714298.1:n.*471G>A | |
| XM_011532027.1:c.*471G>A | XP_011530329.1:n.*471G>A | |
| XM_024454090.1:c.*471G>A | XP_024309858.1:n.*471G>A | |
| NM_000325.6:c.*471G>A MANE Select | NP_000316.2:n.*471G>A | |
| NM_001204397.2:c.*471G>A | NP_001191326.1:n.*471G>A | |
| NM_153426.3:c.*471G>A | NP_700475.1:n.*471G>A | |
| NM_153427.3:c.*471G>A | NP_700476.1:n.*471G>A |