Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541366G>A , CM000680.2:g.31541366G>A | GRCh38 |
| NC_000018.9:g.29121329G>A , CM000680.1:g.29121329G>A | GRCh37 |
| NC_000018.8:g.27375327G>A | NCBI36 |
| NG_007072.3:g.48125G>A , LRG_397:g.48125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2001+52G>A MANE Select | ENSP00000261590.8:n.2001+52G>A | |
| ENST00000261590.12:c.2001+52G>A | ENSP00000261590.8:n.2001+52G>A | |
| NM_001943.3:c.2001+52G>A , LRG_397t1:c.2001+52G>A | NP_001934.2:n.2001+52G>A | |
| NM_001943.4:c.2001+52G>A | NP_001934.2:n.2001+52G>A | |
| XM_024451095.1:c.1467+52G>A | XP_024306863.1:n.1467+52G>A | |
| NM_001943.5:c.2001+52G>A MANE Select | NP_001934.2:n.2001+52G>A |