Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345135A>C , CM000675.2:g.48345135A>C | GRCh38 |
| NC_000013.10:g.48919271A>C , CM000675.1:g.48919271A>C | GRCh37 |
| NC_000013.9:g.47817272A>C | NCBI36 |
| NG_009009.1:g.46389A>C , LRG_517:g.46389A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.436A>C MANE Select | NP_000312.2:p.Asn146His |
| ENST00000267163.6:c.436A>C MANE Select | ENSP00000267163.4:p.Asn146His |
| NM_000321.2:c.436A>C , LRG_517t1:c.436A>C | NP_000312.2:p.Asn146His |
| ENST00000267163.4:c.436A>C | ENSP00000267163.4:p.Asn146His |
| ENST00000467505.5:c.138-14882A>C | ENSP00000434702.1:n.138-14882A>C |
| ENST00000525036.1:n.598A>C | |
| ENST00000650461.1:c.436A>C | ENSP00000497193.1:p.Asn146His |
| XM_011535171.1:c.175A>C | XP_011533473.1:p.Asn59His |
| XM_011535171.2:c.175A>C | XP_011533473.1:p.Asn59His |