Linked Data
ClinVar Variation Id:
302151
ClinVar RCV Id:
RCV000319903
dbSNP Id:
rs780348844
ExAC:
11:10500213 C / T
gnomAD v2:
11-10500213-C-T
gnomAD v3:
11-10478666-C-T
gnomAD v4:
11-10478666-C-T
COSMIC:
COSM1350545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10478666C>T , CM000673.2:g.10478666C>T | GRCh38 |
| NC_000011.9:g.10500213C>T , CM000673.1:g.10500213C>T | GRCh37 |
| NC_000011.8:g.10456789C>T | NCBI36 |
| NG_012041.1:g.32990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.362C>T MANE Select | ENSP00000379801.2:p.Thr121Met | |
| ENST00000396553.6:c.362C>T | ENSP00000379801.2:p.Thr121Met | |
| ENST00000396554.7:c.389C>T | ENSP00000379802.3:p.Thr130Met | |
| ENST00000444303.6:c.-51-3397C>T | ENSP00000396000.2:n.-51-3397C>T | |
| ENST00000524866.5:c.362C>T | ENSP00000433284.1:p.Thr121Met | |
| ENST00000528723.5:c.383C>T | ENSP00000436987.1:p.Thr128Met | |
| ENST00000529507.5:c.362C>T | ENSP00000431648.1:p.Thr121Met | |
| ENST00000529834.5:c.362C>T | ENSP00000435382.1:p.Thr121Met | |
| ENST00000529835.6:n.422-3397C>T | ||
| ENST00000534047.5:c.389C>T | ENSP00000433937.1:p.Thr130Met | |
| NM_000480.2:c.389C>T | NP_000471.1:p.Thr130Met | |
| NM_001025389.1:c.362C>T | NP_001020560.1:p.Thr121Met | |
| NM_001025390.1:c.383C>T | NP_001020561.1:p.Thr128Met | |
| NM_001172430.1:c.362C>T | NP_001165901.1:p.Thr121Met | |
| NM_001172431.1:c.-51-3397C>T | NP_001165902.1:n.-51-3397C>T | |
| NM_000480.3:c.389C>T | NP_000471.1:p.Thr130Met | |
| NM_001025389.2:c.362C>T MANE Select | NP_001020560.1:p.Thr121Met | |
| NM_001025390.2:c.383C>T | NP_001020561.1:p.Thr128Met | |
| NM_001172431.2:c.-51-3397C>T | NP_001165902.1:n.-51-3397C>T |