Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126556849C>T , CM000670.2:g.126556849C>T | GRCh38 |
| NC_000008.10:g.127569094C>T , CM000670.1:g.127569094C>T | GRCh37 |
| NC_000008.9:g.127638276C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174911.5:c.541G>A MANE Select | NP_777571.1:p.Val181Met |
| ENST00000304916.4:c.541G>A MANE Select | ENSP00000302578.3:p.Val181Met |
| NM_174911.4:c.541G>A | NP_777571.1:p.Val181Met |
| NR_156466.1:n.1082G>A | |
| NR_156466.2:n.1082G>A | |
| ENST00000304916.3:c.541G>A | ENSP00000302578.3:p.Val181Met |
| ENST00000652209.1:c.541G>A | ENSP00000498944.1:p.Val181Met |
| XM_017013107.2:c.541G>A | XP_016868596.1:p.Val181Met |
| XM_017013108.2:c.487G>A | XP_016868597.1:p.Val163Met |
| XR_242379.2:n.1082G>A |