Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356258T>G , CM000663.2:g.17356258T>G | GRCh38 |
| NC_000001.10:g.17682753T>G , CM000663.1:g.17682753T>G | GRCh37 |
| NC_000001.9:g.17555340T>G | NCBI36 |
| NG_023261.2:g.53069T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1456-99T>G MANE Select | ENSP00000364597.4:n.1456-99T>G | |
| ENST00000467001.1:n.357-99T>G | ||
| ENST00000487048.5:n.423-99T>G | ||
| NM_012387.2:c.1456-99T>G | NP_036519.2:n.1456-99T>G | |
| XM_011541150.1:c.1270-99T>G | XP_011539452.1:n.1270-99T>G | |
| XM_011541151.1:c.1156-99T>G | XP_011539453.1:n.1156-99T>G | |
| XM_011541152.1:c.919-99T>G | XP_011539454.1:n.919-99T>G | |
| XM_011541157.1:c.565-99T>G | XP_011539459.1:n.565-99T>G | |
| NM_012387.3:c.1456-99T>G MANE Select | NP_036519.2:n.1456-99T>G |