Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465311G>C , CM000675.2:g.48465311G>C | GRCh38 |
| NC_000013.10:g.49039447G>C , CM000675.1:g.49039447G>C | GRCh37 |
| NC_000013.9:g.47937448G>C | NCBI36 |
| NG_009009.1:g.166565G>C , LRG_517:g.166565G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2432G>C MANE Select | NP_000312.2:p.Ser811Thr |
| ENST00000267163.6:c.2432G>C MANE Select | ENSP00000267163.4:p.Ser811Thr |
| NM_000321.2:c.2432G>C , LRG_517t1:c.2432G>C | NP_000312.2:p.Ser811Thr |
| ENST00000267163.4:c.2432G>C | ENSP00000267163.4:p.Ser811Thr |
| ENST00000643064.1:c.194+83868G>C | |
| ENST00000650461.1:c.2432G>C | ENSP00000497193.1:p.Ser811Thr |
| XM_011535171.1:c.2171G>C | XP_011533473.1:p.Ser724Thr |
| XM_011535171.2:c.2171G>C | XP_011533473.1:p.Ser724Thr |