Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128303035A>G , CM000667.2:g.128303035A>G | GRCh38 |
| NC_000005.9:g.127638727A>G , CM000667.1:g.127638727A>G | GRCh37 |
| NC_000005.8:g.127666626A>G | NCBI36 |
| NG_008750.1:g.240009T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.5855T>C MANE Select | NP_001990.2:p.Val1952Ala |
| ENST00000262464.9:c.5855T>C MANE Select | ENSP00000262464.4:p.Val1952Ala |
| NM_001999.3:c.5855T>C | NP_001990.2:p.Val1952Ala |
| ENST00000262464.8:c.5855T>C | ENSP00000262464.4:p.Val1952Ala |
| ENST00000508053.5:c.5855T>C | ENSP00000424571.1:p.Val1952Ala |
| ENST00000619499.4:c.5852T>C | ENSP00000482132.1:p.Val1951Ala |
| ENST00000703783.1:n.2639T>C | |
| ENST00000703785.1:n.2558T>C | |
| XM_017009228.2:c.5702T>C | XP_016864717.1:p.Val1901Ala |