dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62045858T>A , CM000672.2:g.62045858T>A | GRCh38 |
| NC_000010.10:g.63805617T>A , CM000672.1:g.63805617T>A | GRCh37 |
| NC_000010.9:g.63475623T>A | NCBI36 |
| NG_030027.1:g.149605T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.734-5030T>A MANE Select | ENSP00000279873.7:n.734-5030T>A | |
| ENST00000681100.1:c.734-5030T>A | ENSP00000506119.1:n.734-5030T>A | |
| ENST00000279873.11:c.734-5030T>A | ENSP00000279873.7:n.734-5030T>A | |
| NM_032199.2:c.734-5030T>A | NP_115575.1:n.734-5030T>A | |
| XM_011540262.1:c.503-5030T>A | XP_011538564.1:n.503-5030T>A | |
| XM_024448230.1:c.167-5030T>A | XP_024303998.1:n.167-5030T>A | |
| NM_032199.3:c.734-5030T>A MANE Select | NP_115575.1:n.734-5030T>A |