Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404773G>C , CM000665.2:g.190404773G>C | GRCh38 |
| NC_000003.11:g.190122562G>C , CM000665.1:g.190122562G>C | GRCh37 |
| NC_000003.10:g.191605256G>C | NCBI36 |
| NG_008149.1:g.21722G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.229G>C MANE Select | ENSP00000264734.3:p.Val77Leu | |
| ENST00000456423.2:c.115-5130G>C | ENSP00000414136.2:n.115-5130G>C | |
| ENST00000264734.2:c.439G>C | ENSP00000264734.2:p.Val147Leu | |
| ENST00000456423.1:c.325-5130G>C | ENSP00000414136.1:n.325-5130G>C | |
| ENST00000468220.1:n.421G>C | ||
| NM_006580.3:c.439G>C | NP_006571.1:p.Val147Leu | |
| NM_001378492.1:c.229G>C | NP_001365421.1:p.Val77Leu | |
| NM_001378493.1:c.229G>C | NP_001365422.1:p.Val77Leu | |
| NM_006580.4:c.229G>C MANE Select | NP_006571.2:p.Val77Leu |