Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48480034A>G , CM000675.2:g.48480034A>G | GRCh38 |
| NC_000013.10:g.49054170A>G , CM000675.1:g.49054170A>G | GRCh37 |
| NC_000013.9:g.47952171A>G | NCBI36 |
| NG_009009.1:g.181288A>G , LRG_517:g.181288A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2750A>G MANE Select | NP_000312.2:p.Asn917Ser |
| ENST00000267163.6:c.2750A>G MANE Select | ENSP00000267163.4:p.Asn917Ser |
| NM_000321.2:c.2750A>G , LRG_517t1:c.2750A>G | NP_000312.2:p.Asn917Ser |
| ENST00000267163.4:c.2750A>G | ENSP00000267163.4:p.Asn917Ser |
| ENST00000484879.1:n.484A>G | |
| ENST00000531171.5:n.353A>G | |
| ENST00000643064.1:c.194+98591A>G | |
| ENST00000650461.1:c.2769A>G | ENSP00000497193.1:p.Glu923= |
| XM_011535171.1:c.2489A>G | XP_011533473.1:p.Asn830Ser |
| XM_011535171.2:c.2489A>G | XP_011533473.1:p.Asn830Ser |