Linked Data
dbSNP Id:
rs200965026
ExAC:
10:96702006 C / T
gnomAD v2:
10-96702006-C-T
gnomAD v3:
10-94942249-C-T
gnomAD v4:
10-94942249-C-T
COSMIC:
COSM243940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942249C>T , CM000672.2:g.94942249C>T | GRCh38 |
| NC_000010.10:g.96702006C>T , CM000672.1:g.96702006C>T | GRCh37 |
| NC_000010.9:g.96691996C>T | NCBI36 |
| NG_008385.1:g.8592C>T | |
| NG_008385.2:g.9092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.389C>T MANE Select | ENSP00000260682.6:p.Thr130Met | |
| ENST00000643112.1:c.389C>T | ENSP00000496202.1:p.Thr130Met | |
| ENST00000645207.1:n.542C>T | ||
| ENST00000260682.6:c.389C>T | ENSP00000260682.6:p.Thr130Met | |
| ENST00000461906.1:n.414C>T | ||
| ENST00000473496.1:n.160C>T | ||
| NM_000771.3:c.389C>T | NP_000762.2:p.Thr130Met | |
| NM_000771.4:c.389C>T MANE Select | NP_000762.2:p.Thr130Met |