Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206959635T>C , CM000664.2:g.206959635T>C | GRCh38 |
| NC_000002.11:g.207824359T>C , CM000664.1:g.207824359T>C | GRCh37 |
| NC_000002.10:g.207532604T>C | NCBI36 |
| NG_028078.1:g.25082T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272852.4:c.377T>C MANE Select | ENSP00000272852.2:p.Leu126Pro | |
| ENST00000272852.3:c.377T>C | ENSP00000272852.2:p.Leu126Pro | |
| NM_173077.2:c.377T>C | NP_775100.1:p.Leu126Pro | |
| XM_011510627.1:c.377T>C | XP_011508929.1:p.Leu126Pro | |
| XM_017003372.2:c.377T>C | XP_016858861.1:p.Leu126Pro | |
| NM_173077.3:c.377T>C MANE Select | NP_775100.1:p.Leu126Pro |