Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164239G>T , CM000669.2:g.20164239G>T | GRCh38 |
| NC_000007.13:g.20203862G>T , CM000669.1:g.20203862G>T | GRCh37 |
| NC_000007.12:g.20170387G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-9+17C>A MANE Select | ENSP00000383185.3:n.-9+17C>A | |
| ENST00000332878.8:c.-8-2369C>A | ENSP00000328410.4:n.-8-2369C>A | |
| ENST00000400331.9:c.-9+17C>A | ENSP00000383185.3:n.-9+17C>A | |
| ENST00000589011.1:c.-8-2369C>A | ENSP00000466864.1:n.-8-2369C>A | |
| NM_182762.3:c.-9+17C>A | NP_877439.3:n.-9+17C>A | |
| NM_182762.4:c.-9+17C>A MANE Select | NP_877439.3:n.-9+17C>A |