Linked Data
dbSNP Id:
rs372371308
ExAC:
19:44055786 C / T
gnomAD v2:
19-44055786-C-T
gnomAD v3:
19-43551634-C-T
gnomAD v4:
19-43551634-C-T
COSMIC:
COSM997630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551634C>T , CM000681.2:g.43551634C>T | GRCh38 |
| NC_000019.9:g.44055786C>T , CM000681.1:g.44055786C>T | GRCh37 |
| NC_000019.8:g.48747626C>T | NCBI36 |
| NG_033799.1:g.28945G>A , LRG_784:g.28945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1136G>A MANE Select | ENSP00000262887.5:p.Arg379His | |
| ENST00000262887.9:c.1136G>A | ENSP00000262887.4:p.Arg379His | |
| ENST00000543982.5:c.1043G>A | ENSP00000443671.1:p.Arg348His | |
| ENST00000597811.5:c.746G>A | ||
| NM_006297.2:c.1136G>A , LRG_784t1:c.1136G>A | NP_006288.2:p.Arg379His | |
| NM_006297.3:c.1136G>A MANE Select | NP_006288.2:p.Arg379His |