Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465113T>A , CM000675.2:g.48465113T>A | GRCh38 |
| NC_000013.10:g.49039249T>A , CM000675.1:g.49039249T>A | GRCh37 |
| NC_000013.9:g.47937250T>A | NCBI36 |
| NG_009009.1:g.166367T>A , LRG_517:g.166367T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2325+2T>A MANE Select | NP_000312.2:n.2325+2T>A |
| ENST00000267163.6:c.2325+2T>A MANE Select | ENSP00000267163.4:n.2325+2T>A |
| NM_000321.2:c.2325+2T>A , LRG_517t1:c.2325+2T>A | NP_000312.2:n.2325+2T>A |
| ENST00000267163.4:c.2325+2T>A | ENSP00000267163.4:n.2325+2T>A |
| ENST00000643064.1:c.194+83670T>A | |
| ENST00000650461.1:c.2325+2T>A | ENSP00000497193.1:n.2325+2T>A |
| XM_011535171.1:c.2064+2T>A | XP_011533473.1:n.2064+2T>A |
| XM_011535171.2:c.2064+2T>A | XP_011533473.1:n.2064+2T>A |