Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5905000T>C , CM000681.2:g.5905000T>C | GRCh38 |
| NC_000019.9:g.5905011T>C , CM000681.1:g.5905011T>C | GRCh37 |
| NC_000019.8:g.5856011T>C | NCBI36 |
| NG_027808.1:g.4014A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017921.4:c.110T>C MANE Select | NP_001017921.1:p.Val37Ala |
| ENST00000339485.4:c.110T>C MANE Select | ENSP00000343348.2:p.Val37Ala |
| NM_001017921.3:c.110T>C | NP_001017921.1:p.Val37Ala |
| ENST00000339485.3:c.110T>C | ENSP00000343348.2:p.Val37Ala |
| ENST00000588891.1:c.110T>C | ENSP00000468419.1:p.Val37Ala |