Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70353749T>C , CM000685.2:g.70353749T>C | GRCh38 |
| NC_000023.10:g.69573599T>C , CM000685.1:g.69573599T>C | GRCh37 |
| NC_000023.9:g.69490324T>C | NCBI36 |
| NG_016799.1:g.68721T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012310.5:c.1616T>C MANE Select | NP_036442.3:p.Leu539Pro |
| ENST00000374403.4:c.1616T>C MANE Select | ENSP00000363524.3:p.Leu539Pro |
| NM_012310.4:c.1616T>C | NP_036442.3:p.Leu539Pro |
| ENST00000374403.3:c.1616T>C | ENSP00000363524.3:p.Leu539Pro |
| XM_011530893.1:c.1616T>C | XP_011529195.1:p.Leu539Pro |