Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228165989T>C , CM000663.2:g.228165989T>C | GRCh38 |
| NC_000001.10:g.228353690T>C , CM000663.1:g.228353690T>C | GRCh37 |
| NC_000001.9:g.226420313T>C | NCBI36 |
| NG_042231.1:g.5182T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010867.4:c.173T>C MANE Select | NP_001010867.1:p.Leu58Pro |
| ENST00000366711.4:c.173T>C MANE Select | ENSP00000355672.3:p.Leu58Pro |
| NM_001010867.2:c.173T>C | NP_001010867.1:p.Leu58Pro |
| NM_001010867.3:c.173T>C | NP_001010867.1:p.Leu58Pro |
| ENST00000366711.3:c.173T>C | ENSP00000355672.3:p.Leu58Pro |
| XM_006711753.2:c.173T>C | XP_006711816.1:p.Leu58Pro |