Linked Data
ClinVar Variation Id:
161729
ClinVar RCV Id:
RCV000149265
dbSNP Id:
rs193921098
gnomAD v2:
11-125546304-G-A
gnomAD v3:
11-125676409-G-A
gnomAD v4:
11-125676409-G-A
COSMIC:
COSM1178278
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125676409G>A , CM000673.2:g.125676409G>A | GRCh38 |
| NC_000011.9:g.125546304G>A , CM000673.1:g.125546304G>A | GRCh37 |
| NC_000011.8:g.125051514G>A | NCBI36 |
| NG_030049.1:g.56274G>A | |
| NG_047033.1:g.9490C>T | |
| NG_030049.2:g.56274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533904.6:c.623C>T MANE Select | ENSP00000432816.1:p.Thr208Ile | |
| ENST00000315608.7:c.566C>T | ENSP00000317684.3:p.Thr189Ile | |
| ENST00000527795.1:c.413C>T | ENSP00000436819.1:p.Thr138Ile | |
| ENST00000530048.5:c.458C>T | ENSP00000433720.1:p.Thr153Ile | |
| ENST00000533904.5:c.623C>T | ENSP00000432816.1:p.Thr208Ile | |
| NM_001612.5:c.623C>T | NP_001603.1:p.Thr208Ile | |
| NM_020069.4:c.566C>T | NP_064454.1:p.Thr189Ile | |
| NM_020107.4:c.458C>T | NP_064492.1:p.Thr153Ile | |
| NM_020108.4:c.413C>T | NP_064493.1:p.Thr138Ile | |
| NM_001612.6:c.623C>T MANE Select | NP_001603.1:p.Thr208Ile | |
| NM_020069.5:c.566C>T | NP_064454.1:p.Thr189Ile | |
| NM_020107.5:c.458C>T | NP_064492.1:p.Thr153Ile | |
| NM_020108.5:c.413C>T | NP_064493.1:p.Thr138Ile |