Linked Data
dbSNP Id:
rs758582195
ExAC:
10:82034841 C / T
gnomAD v2:
10-82034841-C-T
gnomAD v4:
10-80275085-C-T
COSMIC:
COSM5515354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275085C>T , CM000672.2:g.80275085C>T | GRCh38 |
| NC_000010.10:g.82034841C>T , CM000672.1:g.82034841C>T | GRCh37 |
| NC_000010.9:g.82024821C>T | NCBI36 |
| NG_008083.1:g.19594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.883G>A MANE Select | ENSP00000361287.3:p.Ala295Thr | |
| ENST00000372213.7:c.883G>A | ENSP00000361287.3:p.Ala295Thr | |
| ENST00000480845.1:n.115G>A | ||
| ENST00000485270.5:n.395G>A | ||
| NM_000429.2:c.883G>A | NP_000420.1:p.Ala295Thr | |
| XM_005269842.3:c.883G>A | XP_005269899.1:p.Ala295Thr | |
| XM_005269843.3:c.760G>A | XP_005269900.1:p.Ala254Thr | |
| NM_000429.3:c.883G>A MANE Select | NP_000420.1:p.Ala295Thr |