Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408700C>A , CM000682.2:g.33408700C>A | GRCh38 |
| NC_000020.10:g.31996506C>A , CM000682.1:g.31996506C>A | GRCh37 |
| NC_000020.9:g.31460167C>A | NCBI36 |
| NG_011622.1:g.40193G>T , LRG_332:g.40193G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.1425+1G>T MANE Select | ENSP00000217381.2:n.1425+1G>T | |
| ENST00000217381.2:c.1425+1G>T | ENSP00000217381.2:n.1425+1G>T | |
| NM_003098.2:c.1425+1G>T , LRG_332t1:c.1425+1G>T | NP_003089.1:n.1425+1G>T | |
| XM_005260517.1:c.1425+1G>T | XP_005260574.1:n.1425+1G>T | |
| XM_011529007.1:c.1457+1G>T | XP_011527309.1:n.1457+1G>T | |
| XM_011529008.1:c.1457+1G>T | XP_011527310.1:n.1457+1G>T | |
| XR_936612.1:n.1461+1G>T | ||
| XM_024451971.1:c.1098+1G>T | XP_024307739.1:n.1098+1G>T | |
| NM_003098.3:c.1425+1G>T MANE Select | NP_003089.1:n.1425+1G>T |