Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380229G>C , CM000675.2:g.48380229G>C | GRCh38 |
| NC_000013.10:g.48954365G>C , CM000675.1:g.48954365G>C | GRCh37 |
| NC_000013.9:g.47852366G>C | NCBI36 |
| NG_009009.1:g.81483G>C , LRG_517:g.81483G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1486G>C MANE Select | ENSP00000267163.4:p.Ala496Pro | |
| ENST00000650461.1:c.1486G>C | ENSP00000497193.1:p.Ala496Pro | |
| ENST00000267163.4:c.1486G>C | ENSP00000267163.4:p.Ala496Pro | |
| NM_000321.2:c.1486G>C , LRG_517t1:c.1486G>C | NP_000312.2:p.Ala496Pro | |
| XM_011535171.1:c.1225G>C | XP_011533473.1:p.Ala409Pro | |
| XM_011535171.2:c.1225G>C | XP_011533473.1:p.Ala409Pro | |
| NM_000321.3:c.1486G>C MANE Select | NP_000312.2:p.Ala496Pro |