Linked Data
dbSNP Id:
rs779496235
ExAC:
4:68619935 G / A
gnomAD v2:
4-68619935-G-A
gnomAD v3:
4-67754217-G-A
gnomAD v4:
4-67754217-G-A
COSMIC:
COSM5060428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754217G>A , CM000666.2:g.67754217G>A | GRCh38 |
| NC_000004.11:g.68619935G>A , CM000666.1:g.68619935G>A | GRCh37 |
| NC_000004.10:g.68302530G>A | NCBI36 |
| NG_009293.1:g.6870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.119C>T MANE Select | ENSP00000226413.5:p.Thr40Met | |
| ENST00000226413.4:c.119C>T | ENSP00000226413.4:p.Thr40Met | |
| ENST00000420975.2:c.119C>T | ENSP00000397561.2:p.Thr40Met | |
| NM_000406.2:c.119C>T | NP_000397.1:p.Thr40Met | |
| NM_001012763.1:c.119C>T | NP_001012781.1:p.Thr40Met | |
| NM_000406.3:c.119C>T MANE Select | NP_000397.1:p.Thr40Met | |
| NM_001012763.2:c.119C>T | NP_001012781.1:p.Thr40Met |