Linked Data
dbSNP Id:
rs201912869
ExAC:
8:37823747 C / T
gnomAD v2:
8-37823747-C-T
gnomAD v3:
8-37966229-C-T
gnomAD v4:
8-37966229-C-T
COSMIC:
COSM300841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966229C>T , CM000670.2:g.37966229C>T | GRCh38 |
| NC_000008.10:g.37823747C>T , CM000670.1:g.37823747C>T | GRCh37 |
| NC_000008.9:g.37942904C>T | NCBI36 |
| NG_011936.1:g.5438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.241G>A MANE Select | ENSP00000343782.3:p.Ala81Thr | |
| ENST00000520341.2:n.369G>A | ||
| ENST00000345060.4:c.241G>A | ENSP00000343782.3:p.Ala81Thr | |
| ENST00000614635.1:c.241G>A | ENSP00000480325.1:p.Ala81Thr | |
| NM_000025.2:c.241G>A | NP_000016.1:p.Ala81Thr | |
| NM_000025.3:c.241G>A MANE Select | NP_000016.1:p.Ala81Thr |