Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44377008C>A , CM000679.2:g.44377008C>A | GRCh38 |
| NC_000017.10:g.42454376C>A , CM000679.1:g.42454376C>A | GRCh37 |
| NC_000017.9:g.39809902C>A | NCBI36 |
| NG_008331.1:g.17498G>T , LRG_479:g.17498G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.2267+1G>T MANE Select | NP_000410.2:n.2267+1G>T |
| ENST00000262407.6:c.2267+1G>T MANE Select | ENSP00000262407.5:n.2267+1G>T |
| NM_000419.3:c.2267+1G>T , LRG_479t1:c.2267+1G>T | NP_000410.2:n.2267+1G>T |
| NM_000419.4:c.2267+1G>T | NP_000410.2:n.2267+1G>T |
| ENST00000262407.5:c.2267+1G>T | ENSP00000262407.5:n.2267+1G>T |
| ENST00000592462.5:n.1062+1G>T | |
| ENST00000648408.1:c.1698+1G>T | |
| XM_011524749.1:c.2267+1G>T | XP_011523051.1:n.2267+1G>T |
| XM_011524750.1:c.2267+1G>T | XP_011523052.1:n.2267+1G>T |