Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465369G= , CM000675.2:g.48465369G= | GRCh38 |
| NC_000013.10:g.49039505G= , CM000675.1:g.49039505G= | GRCh37 |
| NC_000013.9:g.47937506G= | NCBI36 |
| NG_009009.1:g.166623G= , LRG_517:g.166623G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2489+1G= MANE Select | NP_000312.2:n.2489+1G= |
| ENST00000267163.6:c.2489+1G= MANE Select | ENSP00000267163.4:n.2489+1G= |
| NM_000321.2:c.2489+1G= , LRG_517t1:c.2489+1G= | NP_000312.2:n.2489+1G= |
| ENST00000267163.4:c.2489+1G= | ENSP00000267163.4:n.2489+1G= |
| ENST00000643064.1:c.194+83926G= | |
| ENST00000650461.1:c.2489+1G= | ENSP00000497193.1:n.2489+1G= |
| XM_011535171.1:c.2228+1G= | XP_011533473.1:n.2228+1G= |
| XM_011535171.2:c.2228+1G= | XP_011533473.1:n.2228+1G= |