Linked Data
ClinVar Variation Id:
350624
ClinVar RCV Id:
RCV000329948
dbSNP Id:
rs181936031
gnomAD v2:
5-126172459-A-T
gnomAD v3:
5-126836767-A-T
gnomAD v4:
5-126836767-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126836767A>T , CM000667.2:g.126836767A>T | GRCh38 |
| NC_000005.9:g.126172459A>T , CM000667.1:g.126172459A>T | GRCh37 |
| NC_000005.8:g.126200358A>T | NCBI36 |
| NG_008360.2:g.64627A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.*503A>T MANE Select | ENSP00000261366.5:n.*503A>T | |
| ENST00000261366.9:c.*503A>T | ENSP00000261366.5:n.*503A>T | |
| ENST00000460265.5:c.*1352A>T | ENSP00000486528.1:n.*1352A>T | |
| NM_001198557.1:c.*503A>T | NP_001185486.1:n.*503A>T | |
| NM_005573.3:c.*503A>T | NP_005564.1:n.*503A>T | |
| XR_948250.1:n.2706A>T | ||
| NR_134488.1:n.3228A>T | ||
| NM_005573.4:c.*503A>T MANE Select | NP_005564.1:n.*503A>T | |
| NM_001198557.2:c.*503A>T | NP_001185486.1:n.*503A>T |