Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814194C>A , CM000671.2:g.127814194C>A | GRCh38 |
| NC_000009.11:g.130576473C>A , CM000671.1:g.130576473C>A | GRCh37 |
| NC_000009.10:g.129616294C>A | NCBI36 |
| NG_009551.1:g.45575G>T , LRG_589:g.45575G>T | |
| NG_023245.1:g.16320C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-14C>A | |
| XM_005251864.2:c.1484-14C>A | XP_005251921.1:n.1484-14C>A |
| XM_005251864.4:c.1484-14C>A | XP_005251921.1:n.1484-14C>A |
| XM_017014565.2:c.1334-14C>A | XP_016870054.1:n.1334-14C>A |
| XR_242582.2:n.1381-14C>A | |
| XR_242582.4:n.1379-14C>A |