Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733453G>A , CM000679.2:g.47733453G>A | GRCh38 |
| NC_000017.10:g.45810819G>A , CM000679.1:g.45810819G>A | GRCh37 |
| NC_000017.9:g.43165818G>A | NCBI36 |
| NG_012166.1:g.5210G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.-2G>A MANE Select | ENSP00000177694.1:n.-2G>A | |
| ENST00000177694.1:c.-2G>A | ENSP00000177694.1:n.-2G>A | |
| ENST00000581328.1:n.29G>A | ||
| NM_013351.1:c.-2G>A | NP_037483.1:n.-2G>A | |
| XM_011524698.1:c.-2G>A | XP_011523000.1:n.-2G>A | |
| NM_013351.2:c.-2G>A MANE Select | NP_037483.1:n.-2G>A |