Linked Data
ClinVar Variation Id:
410304
ClinVar RCV Id:
RCV000458109
dbSNP Id:
rs149139347
ExAC:
7:769401 G / A
gnomAD v2:
7-769401-G-A
gnomAD v3:
7-729764-G-A
gnomAD v4:
7-729764-G-A
COSMIC:
COSM1209443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.729764G>A , CM000669.2:g.729764G>A | GRCh38 |
| NC_000007.13:g.769401G>A , CM000669.1:g.769401G>A | GRCh37 |
| NC_000007.12:g.735927G>A | NCBI36 |
| NG_033137.1:g.8064G>A | |
| NG_042811.1:g.2913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.697G>A MANE Select | ENSP00000297440.6:p.Ala233Thr | |
| ENST00000297440.10:c.697G>A | ENSP00000297440.6:p.Ala233Thr | |
| ENST00000437419.5:c.97+2449G>A | ||
| ENST00000438961.1:n.166G>A | ||
| ENST00000440747.5:c.101G>A | ||
| NM_017802.3:c.697G>A | NP_060272.3:p.Ala233Thr | |
| NR_075098.1:n.655G>A | ||
| XM_024446813.1:c.697G>A | XP_024302581.1:p.Ala233Thr | |
| XM_024446814.1:c.91G>A | XP_024302582.1:p.Ala31Thr | |
| NM_017802.4:c.697G>A MANE Select | NP_060272.3:p.Ala233Thr | |
| NR_075098.2:n.657G>A |