Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120732971T>C , CM000669.2:g.120732971T>C | GRCh38 |
| NC_000007.13:g.120373025T>C , CM000669.1:g.120373025T>C | GRCh37 |
| NC_000007.12:g.120160261T>C | NCBI36 |
| NG_034230.1:g.464304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.1184T>C MANE Select | ENSP00000333496.4:p.Val395Ala | |
| ENST00000331113.8:c.1184T>C | ENSP00000333496.4:p.Val395Ala | |
| NM_012281.2:c.1184T>C | NP_036413.1:p.Val395Ala | |
| NM_012281.3:c.1184T>C MANE Select | NP_036413.1:p.Val395Ala |