Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160027292C= , CM000668.2:g.160027292C= | GRCh38 |
| NC_000006.11:g.160448324C= , CM000668.1:g.160448324C= | GRCh37 |
| NC_000006.10:g.160368314C= | NCBI36 |
| NG_011785.3:g.63194C= | |
| NG_011785.4:g.63194C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000876.4:c.754C= MANE Select | NP_000867.3:p.Leu252= |
| ENST00000356956.6:c.754C= MANE Select | ENSP00000349437.1:p.Leu252= |
| NM_000876.2:c.754C= | NP_000867.2:p.Leu252= |
| NM_000876.3:c.754C= | NP_000867.2:p.Leu252= |
| ENST00000356956.5:c.754C= | ENSP00000349437.1:p.Leu252= |
| ENST00000676781.1:c.754C= | ENSP00000504419.1:p.Leu252= |
| ENST00000677704.1:c.754C= | ENSP00000503314.1:p.Leu252= |
| XR_942419.1:n.769C= |