Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977937A>G , CM000674.2:g.14977937A>G | GRCh38 |
| NC_000012.11:g.15130871A>G , CM000674.1:g.15130871A>G | GRCh37 |
| NC_000012.10:g.15022138A>G | NCBI36 |
| NG_016859.1:g.9916A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-35A>G MANE Select | ENSP00000266395.2:n.-41-35A>G | |
| ENST00000266395.2:c.-41-35A>G | ENSP00000266395.2:n.-41-35A>G | |
| NM_006205.2:c.-41-35A>G | NP_006196.1:n.-41-35A>G | |
| XR_931376.1:n.175+11550T>C | ||
| XM_017019431.2:c.-76A>G | XP_016874920.1:n.-76A>G | |
| XR_931376.2:n.389+11550T>C | ||
| NM_006205.3:c.-41-35A>G MANE Select | NP_006196.1:n.-41-35A>G |