Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32584361G= , CM000668.2:g.32584361G= | GRCh38 |
| NC_000006.11:g.32552138G= , CM000668.1:g.32552138G= | GRCh37 |
| NC_000006.10:g.32660116G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002124.4:c.118C= MANE Select | NP_002115.2:p.Pro40= |
| ENST00000360004.6:c.118C= MANE Select | ENSP00000353099.5:p.Pro40= |
| NM_002124.3:c.118C= | NP_002115.2:p.Pro40= |
| ENST00000360004.5:c.118C= | ENSP00000353099.5:p.Pro40= |
| ENST00000611060.4:c.118C= | ENSP00000480667.1:p.Pro40= |
| ENST00000696610.1:c.*23C= | ENSP00000512754.1:n.*23C= |
| ENST00000696611.1:n.41C= | |
| ENST00000696612.1:n.181C= | |
| ENST00000696613.1:n.96C= | |
| ENST00000696614.1:n.246C= |