Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71784966C>A , CM000665.2:g.71784966C>A | GRCh38 |
| NC_000003.11:g.71834117C>A , CM000665.1:g.71834117C>A | GRCh37 |
| NC_000003.10:g.71916807C>A | NCBI36 |
| NG_008275.1:g.5241G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295619.4:c.87G>T MANE Select | ENSP00000295619.3:p.Val29= | |
| ENST00000295619.3:c.87G>T | ENSP00000295619.3:p.Val29= | |
| ENST00000353065.7:c.87G>T | ENSP00000295618.3:p.Val29= | |
| NM_001126128.1:c.87G>T | NP_001119600.1:p.Val29= | |
| NM_021935.3:c.87G>T | NP_068754.1:p.Val29= | |
| NM_001126128.2:c.87G>T MANE Select | NP_001119600.1:p.Val29= | |
| NM_021935.4:c.87G>T | NP_068754.1:p.Val29= |