Linked Data
dbSNP Id:
rs2146048984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551622T>A , CM000681.2:g.43551622T>A | GRCh38 |
| NC_000019.9:g.44055774T>A , CM000681.1:g.44055774T>A | GRCh37 |
| NC_000019.8:g.48747614T>A | NCBI36 |
| NG_033799.1:g.28957A>T , LRG_784:g.28957A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1148A>T MANE Select | ENSP00000262887.5:p.Lys383Met | |
| ENST00000262887.9:c.1148A>T | ENSP00000262887.4:p.Lys383Met | |
| ENST00000543982.5:c.1055A>T | ENSP00000443671.1:p.Lys352Met | |
| ENST00000597811.5:c.758A>T | ||
| NM_006297.2:c.1148A>T , LRG_784t1:c.1148A>T | NP_006288.2:p.Lys383Met | |
| NM_006297.3:c.1148A>T MANE Select | NP_006288.2:p.Lys383Met |