Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17046068A>G , CM000672.2:g.17046068A>G | GRCh38 |
| NC_000010.10:g.17088067A>G , CM000672.1:g.17088067A>G | GRCh37 |
| NC_000010.9:g.17128073A>G | NCBI36 |
| NG_008967.1:g.88750T>C , LRG_540:g.88750T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.3356T>C MANE Select | NP_001072.2:p.Leu1119Ser |
| ENST00000377833.10:c.3356T>C MANE Select | ENSP00000367064.4:p.Leu1119Ser |
| NM_001081.3:c.3356T>C , LRG_540t1:c.3356T>C | NP_001072.2:p.Leu1119Ser |
| ENST00000377833.8:c.3356T>C | ENSP00000367064.4:p.Leu1119Ser |
| XM_011519708.1:c.3356T>C | XP_011518010.1:p.Leu1119Ser |
| XM_011519708.2:c.3356T>C | XP_011518010.1:p.Leu1119Ser |