Linked Data
dbSNP Id:
rs2146049130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551652A>G , CM000681.2:g.43551652A>G | GRCh38 |
| NC_000019.9:g.44055804A>G , CM000681.1:g.44055804A>G | GRCh37 |
| NC_000019.8:g.48747644A>G | NCBI36 |
| NG_033799.1:g.28927T>C , LRG_784:g.28927T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1118T>C MANE Select | ENSP00000262887.5:p.Val373Ala | |
| ENST00000262887.9:c.1118T>C | ENSP00000262887.4:p.Val373Ala | |
| ENST00000543982.5:c.1025T>C | ENSP00000443671.1:p.Val342Ala | |
| ENST00000597811.5:c.728T>C | ||
| NM_006297.2:c.1118T>C , LRG_784t1:c.1118T>C | NP_006288.2:p.Val373Ala | |
| NM_006297.3:c.1118T>C MANE Select | NP_006288.2:p.Val373Ala |