Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230274569G>A , CM000663.2:g.230274569G>A | GRCh38 |
| NC_000001.10:g.230410315G>A , CM000663.1:g.230410315G>A | GRCh37 |
| NC_000001.9:g.228476938G>A | NCBI36 |
| NG_011854.1:g.212360G>A | |
| NG_011854.2:g.221781G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004481.5:c.1560+5G>A MANE Select | NP_004472.1:n.1560+5G>A |
| ENST00000366672.5:c.1560+5G>A MANE Select | ENSP00000355632.4:n.1560+5G>A |
| NM_001291866.1:c.1446+5G>A | NP_001278795.1:n.1446+5G>A |
| NM_001291866.2:c.1446+5G>A | NP_001278795.1:n.1446+5G>A |
| NM_004481.4:c.1560+5G>A | NP_004472.1:n.1560+5G>A |
| ENST00000366672.4:c.1560+5G>A | ENSP00000355632.4:n.1560+5G>A |
| ENST00000485438.1:n.1212+5G>A | |
| XM_011544154.1:c.1488+5G>A | XP_011542456.1:n.1488+5G>A |
| XM_011544155.1:c.1359+5G>A | XP_011542457.1:n.1359+5G>A |