Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124876344T>C , CM000673.2:g.124876344T>C | GRCh38 |
| NC_000011.9:g.124746240T>C , CM000673.1:g.124746240T>C | GRCh37 |
| NC_000011.8:g.124251450T>C | NCBI36 |
| NG_016214.1:g.15936T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.2663T>C MANE Select | NP_071765.2:p.Leu888Pro |
| ENST00000397801.6:c.2663T>C MANE Select | ENSP00000380903.1:p.Leu888Pro |
| NM_001370356.1:c.-191T>C | NP_001357285.1:n.-191T>C |
| NM_022370.3:c.2663T>C | NP_071765.2:p.Leu888Pro |
| NR_163409.1:n.163T>C | |
| ENST00000397801.5:c.2663T>C | ENSP00000380903.1:p.Leu888Pro |
| ENST00000527196.5:n.224T>C | |
| ENST00000538940.5:c.2597T>C | ENSP00000441797.1:p.Leu866Pro |
| XM_011542953.1:c.3635T>C | XP_011541255.1:p.Leu1212Pro |
| XM_017018122.1:c.2597T>C | XP_016873611.1:p.Leu866Pro |