Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459729C= , CM000675.2:g.48459729C= | GRCh38 |
| NC_000013.10:g.49033865C= , CM000675.1:g.49033865C= | GRCh37 |
| NC_000013.9:g.47931866C= | NCBI36 |
| NG_009009.1:g.160983C= , LRG_517:g.160983C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2002C= MANE Select | ENSP00000267163.4:p.Arg668= | |
| ENST00000643064.1:c.194+78286C= | ||
| ENST00000650461.1:c.2002C= | ENSP00000497193.1:p.Arg668= | |
| ENST00000267163.4:c.2002C= | ENSP00000267163.4:p.Arg668= | |
| NM_000321.2:c.2002C= , LRG_517t1:c.2002C= | NP_000312.2:p.Arg668= | |
| XM_011535171.1:c.1741C= | XP_011533473.1:p.Arg581= | |
| XM_011535171.2:c.1741C= | XP_011533473.1:p.Arg581= | |
| NM_000321.3:c.2002C= MANE Select | NP_000312.2:p.Arg668= |