Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164220A>C , CM000669.2:g.20164220A>C | GRCh38 |
| NC_000007.13:g.20203843A>C , CM000669.1:g.20203843A>C | GRCh37 |
| NC_000007.12:g.20170368A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-9+36T>G MANE Select | ENSP00000383185.3:n.-9+36T>G | |
| ENST00000332878.8:c.-8-2350T>G | ENSP00000328410.4:n.-8-2350T>G | |
| ENST00000400331.9:c.-9+36T>G | ENSP00000383185.3:n.-9+36T>G | |
| ENST00000589011.1:c.-8-2350T>G | ENSP00000466864.1:n.-8-2350T>G | |
| NM_182762.3:c.-9+36T>G | NP_877439.3:n.-9+36T>G | |
| NM_182762.4:c.-9+36T>G MANE Select | NP_877439.3:n.-9+36T>G |