Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7654516C>G , CM000679.2:g.7654516C>G | GRCh38 |
| NC_000017.10:g.7557834C>G , CM000679.1:g.7557834C>G | GRCh37 |
| NC_000017.9:g.7498559C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000250111.9:c.553-112C>G MANE Select | ENSP00000250111.4:n.553-112C>G | |
| ENST00000250111.8:c.553-112C>G | ENSP00000250111.4:n.553-112C>G | |
| ENST00000577026.5:c.307-112C>G | ENSP00000459145.1:n.307-112C>G | |
| ENST00000577113.1:c.150-112C>G | ||
| NM_001303263.1:c.307-112C>G | NP_001290192.1:n.307-112C>G | |
| NM_001678.4:c.553-112C>G | NP_001669.3:n.553-112C>G | |
| NM_001678.5:c.553-112C>G MANE Select | NP_001669.3:n.553-112C>G | |
| NM_001303263.2:c.307-112C>G | NP_001290192.1:n.307-112C>G |