Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476834C= , CM000675.2:g.48476834C= | GRCh38 |
| NC_000013.10:g.49050970C= , CM000675.1:g.49050970C= | GRCh37 |
| NC_000013.9:g.47948971C= | NCBI36 |
| NG_009009.1:g.178088C= , LRG_517:g.178088C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2654C= MANE Select | ENSP00000267163.4:p.Ala885= | |
| ENST00000643064.1:c.194+95391C= | ||
| ENST00000650461.1:c.2654C= | ENSP00000497193.1:p.Ala885= | |
| ENST00000267163.4:c.2654C= | ENSP00000267163.4:p.Ala885= | |
| ENST00000484879.1:n.388C= | ||
| ENST00000531171.5:n.257C= | ||
| NM_000321.2:c.2654C= , LRG_517t1:c.2654C= | NP_000312.2:p.Ala885= | |
| XM_011535171.1:c.2393C= | XP_011533473.1:p.Ala798= | |
| XM_011535171.2:c.2393C= | XP_011533473.1:p.Ala798= | |
| NM_000321.3:c.2654C= MANE Select | NP_000312.2:p.Ala885= |