Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223959821T>C , CM000664.2:g.223959821T>C | GRCh38 |
| NC_000002.11:g.224824538T>C , CM000664.1:g.224824538T>C | GRCh37 |
| NC_000002.10:g.224532782T>C | NCBI36 |
| NG_050679.1:g.13932T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022915.5:c.467T>C MANE Select | NP_075066.1:p.Leu156Pro |
| ENST00000258383.4:c.467T>C MANE Select | ENSP00000258383.3:p.Leu156Pro |
| NM_022915.3:c.467T>C | NP_075066.1:p.Leu156Pro |
| NM_022915.4:c.467T>C | NP_075066.1:p.Leu156Pro |
| ENST00000258383.3:c.467T>C | ENSP00000258383.3:p.Leu156Pro |
| XM_011511668.1:c.425T>C | XP_011509970.1:p.Leu142Pro |
| XM_011511668.2:c.425T>C | XP_011509970.1:p.Leu142Pro |