Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362902A>G , CM000675.2:g.48362902A>G | GRCh38 |
| NC_000013.10:g.48937038A>G , CM000675.1:g.48937038A>G | GRCh37 |
| NC_000013.9:g.47835039A>G | NCBI36 |
| NG_009009.1:g.64156A>G , LRG_517:g.64156A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.806A>G MANE Select | NP_000312.2:p.Asn269Ser |
| ENST00000267163.6:c.806A>G MANE Select | ENSP00000267163.4:p.Asn269Ser |
| NM_000321.2:c.806A>G , LRG_517t1:c.806A>G | NP_000312.2:p.Asn269Ser |
| ENST00000267163.4:c.806A>G | ENSP00000267163.4:p.Asn269Ser |
| ENST00000467505.5:c.*174A>G | ENSP00000434702.1:n.*174A>G |
| ENST00000650461.1:c.806A>G | ENSP00000497193.1:p.Asn269Ser |
| XM_011535171.1:c.545A>G | XP_011533473.1:p.Asn182Ser |
| XM_011535171.2:c.545A>G | XP_011533473.1:p.Asn182Ser |