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