Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380323A>G , CM000675.2:g.48380323A>G | GRCh38 |
| NC_000013.10:g.48954459A>G , CM000675.1:g.48954459A>G | GRCh37 |
| NC_000013.9:g.47852460A>G | NCBI36 |
| NG_009009.1:g.81577A>G , LRG_517:g.81577A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1498+82A>G MANE Select | ENSP00000267163.4:n.1498+82A>G | |
| ENST00000650461.1:c.1498+82A>G | ENSP00000497193.1:n.1498+82A>G | |
| ENST00000267163.4:c.1498+82A>G | ENSP00000267163.4:n.1498+82A>G | |
| NM_000321.2:c.1498+82A>G , LRG_517t1:c.1498+82A>G | NP_000312.2:n.1498+82A>G | |
| XM_011535171.1:c.1237+82A>G | XP_011533473.1:n.1237+82A>G | |
| XM_011535171.2:c.1237+82A>G | XP_011533473.1:n.1237+82A>G | |
| NM_000321.3:c.1498+82A>G MANE Select | NP_000312.2:n.1498+82A>G |