Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023762A>G , CM000674.2:g.6023762A>G | GRCh38 |
| NC_000012.11:g.6132928A>G , CM000674.1:g.6132928A>G | GRCh37 |
| NC_000012.10:g.6003189A>G | NCBI36 |
| NG_009072.1:g.105909T>C | |
| NG_009072.2:g.105909T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3248T>C MANE Select | ENSP00000261405.5:p.Val1083Ala | |
| ENST00000261405.9:c.3248T>C | ENSP00000261405.5:p.Val1083Ala | |
| ENST00000538635.5:n.421-29828T>C | ||
| NM_000552.3:c.3248T>C | NP_000543.2:p.Val1083Ala | |
| NM_000552.4:c.3248T>C | NP_000543.2:p.Val1083Ala | |
| NM_000552.5:c.3248T>C MANE Select | NP_000543.3:p.Val1083Ala |