Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444626A>G , CM000663.2:g.15444626A>G | GRCh38 |
| NC_000001.10:g.15771121A>G , CM000663.1:g.15771121A>G | GRCh37 |
| NC_000001.9:g.15643708A>G | NCBI36 |
| NG_009253.1:g.11184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.514A>G MANE Select | ENSP00000365116.4:p.Lys172Glu | |
| ENST00000375943.6:c.*94-971A>G | ENSP00000365110.2:n.*94-971A>G | |
| ENST00000375949.4:c.514A>G | ENSP00000365116.4:p.Lys172Glu | |
| ENST00000483406.1:n.404-971A>G | ||
| NM_007272.2:c.514A>G | NP_009203.2:p.Lys172Glu | |
| XM_011540550.1:c.494-971A>G | XP_011538852.1:n.494-971A>G | |
| NM_007272.3:c.514A>G MANE Select | NP_009203.2:p.Lys172Glu |