Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422020T>C , CM000685.2:g.74422020T>C | GRCh38 |
| NC_000023.10:g.73641855T>C , CM000685.1:g.73641855T>C | GRCh37 |
| NC_000023.9:g.73558580T>C | NCBI36 |
| NG_011641.1:g.5771T>C | |
| NG_011641.2:g.5771T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.383T>C MANE Select | ENSP00000465734.1:p.Leu128Pro | |
| ENST00000636771.1:c.129T>C | ||
| ENST00000587091.5:c.383T>C | ENSP00000465734.1:p.Leu128Pro | |
| NM_006517.4:c.383T>C | NP_006508.2:p.Leu128Pro | |
| XM_005262294.1:c.383T>C | XP_005262351.1:p.Leu128Pro | |
| XM_011531015.1:c.383T>C | XP_011529317.1:p.Leu128Pro | |
| NM_006517.5:c.383T>C MANE Select | NP_006508.2:p.Leu128Pro |