Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831822G>A , CM000664.2:g.70831822G>A | GRCh38 |
| NC_000002.11:g.71058953G>A , CM000664.1:g.71058953G>A | GRCh37 |
| NC_000002.10:g.70912461G>A | NCBI36 |
| NG_033914.1:g.9002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.718-3C>T MANE Select | ENSP00000386378.3:n.718-3C>T | |
| ENST00000410009.4:c.718-3C>T | ENSP00000386378.3:n.718-3C>T | |
| NM_015717.4:c.718-3C>T | NP_056532.4:n.718-3C>T | |
| XM_011532874.1:c.718-3C>T | XP_011531176.1:n.718-3C>T | |
| XM_011532875.1:c.718-3C>T | XP_011531177.1:n.718-3C>T | |
| XM_011532876.1:c.718-3C>T | XP_011531178.1:n.718-3C>T | |
| XM_011532875.2:c.718-3C>T | XP_011531177.1:n.718-3C>T | |
| XM_011532876.2:c.718-3C>T | XP_011531178.1:n.718-3C>T | |
| NM_015717.5:c.718-3C>T MANE Select | NP_056532.4:n.718-3C>T |