Linked Data
dbSNP Id:
rs779693148
ExAC:
20:60503377 C / T
gnomAD v2:
20-60503377-C-T
gnomAD v3:
20-61928319-C-T
gnomAD v4:
20-61928319-C-T
COSMIC:
COSM4100010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928319C>T , CM000682.2:g.61928319C>T | GRCh38 |
| NC_000020.10:g.60503377C>T , CM000682.1:g.60503377C>T | GRCh37 |
| NC_000020.9:g.59936772C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1901C>T MANE Select | ENSP00000484928.1:p.Thr634Met | |
| ENST00000543233.2:c.1679C>T | ENSP00000443301.1:p.Thr560Met | |
| ENST00000611855.4:c.1619C>T | ENSP00000480844.1:p.Thr540Met | |
| ENST00000614565.4:c.1901C>T | ENSP00000484928.1:p.Thr634Met | |
| NM_001252338.2:c.1790C>T | NP_001239267.1:p.Thr597Met | |
| NM_001252339.2:c.1679C>T | NP_001239268.1:p.Thr560Met | |
| NM_001794.4:c.1901C>T | NP_001785.2:p.Thr634Met | |
| NM_001794.5:c.1901C>T MANE Select | NP_001785.2:p.Thr634Met | |
| NM_001252339.3:c.1679C>T | NP_001239268.1:p.Thr560Met |