gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93556396A>T , CM000675.2:g.93556396A>T | GRCh38 |
| NC_000013.10:g.94208649A>T , CM000675.1:g.94208649A>T | GRCh37 |
| NC_000013.9:g.93006650A>T | NCBI36 |
| NG_011880.1:g.334572A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.319+10975A>T MANE Select | ENSP00000366246.3:n.319+10975A>T | |
| ENST00000377047.8:c.319+10975A>T | ENSP00000366246.3:n.319+10975A>T | |
| NM_005708.3:c.319+10975A>T | NP_005699.1:n.319+10975A>T | |
| XM_011521044.1:c.109+10975A>T | XP_011519346.1:n.109+10975A>T | |
| NM_005708.4:c.319+10975A>T | NP_005699.1:n.319+10975A>T | |
| XM_011521044.2:c.109+10975A>T | XP_011519346.1:n.109+10975A>T | |
| XM_017020298.1:c.109+10975A>T | XP_016875787.1:n.109+10975A>T | |
| XM_017020299.2:c.109+10975A>T | XP_016875788.1:n.109+10975A>T | |
| XM_017020300.1:c.109+10975A>T | XP_016875789.1:n.109+10975A>T | |
| NM_005708.5:c.319+10975A>T MANE Select | NP_005699.1:n.319+10975A>T |