Linked Data
dbSNP Id:
rs1307931082
gnomAD v2:
X-37663265-G-A
gnomAD v3:
X-37804012-G-A
gnomAD v4:
X-37804012-G-A
COSMIC:
COSM4109348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804012G>A , CM000685.2:g.37804012G>A | GRCh38 |
| NC_000023.10:g.37663265G>A , CM000685.1:g.37663265G>A | GRCh37 |
| NC_000023.9:g.37548209G>A | NCBI36 |
| NG_009065.1:g.28996G>A , LRG_53:g.28996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*542G>A | ENSP00000512461.1:n.*542G>A | |
| ENST00000696171.1:c.937G>A | ENSP00000512462.1:p.Ala313Thr | |
| ENST00000378588.5:c.1033G>A MANE Select | ENSP00000367851.4:p.Ala345Thr | |
| ENST00000378588.4:c.1033G>A | ENSP00000367851.4:p.Ala345Thr | |
| ENST00000465127.1:c.171+378012G>A | ENSP00000417050.1:n.171+378012G>A | |
| ENST00000492288.1:n.458G>A | ||
| NM_000397.3:c.1033G>A , LRG_53t1:c.1033G>A | NP_000388.2:p.Ala345Thr | |
| XM_011543890.1:c.727G>A | XP_011542192.1:p.Ala243Thr | |
| NM_000397.4:c.1033G>A MANE Select | NP_000388.2:p.Ala345Thr |