ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48791329G>C , CM000685.2:g.48791329G>C | GRCh38 |
| NC_000023.10:g.48649736G>C , CM000685.1:g.48649736G>C | GRCh37 |
| NC_000023.9:g.48534680G>C | NCBI36 |
| NG_008846.2:g.9756G>C , LRG_559:g.9756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.-29-515G>C | ENSP00000498550.1:n.-29-515G>C | |
| ENST00000696450.1:c.220G>C | ENSP00000512637.1:p.Val74Leu | |
| ENST00000696451.1:c.-29-515G>C | ENSP00000512638.1:n.-29-515G>C | |
| ENST00000696452.1:c.-29-515G>C | ENSP00000512639.1:n.-29-515G>C | |
| ENST00000376670.9:c.220G>C MANE Select | ENSP00000365858.3:p.Val74Leu | |
| ENST00000651144.1:c.-29-515G>C | ENSP00000498550.1:n.-29-515G>C | |
| ENST00000376665.4:c.220G>C | ENSP00000365853.3:p.Val74Leu | |
| ENST00000376670.7:c.220G>C | ENSP00000365858.3:p.Val74Leu | |
| NM_002049.3:c.220G>C , LRG_559t1:c.220G>C | NP_002040.1:p.Val74Leu | |
| XM_011543897.1:c.220G>C | XP_011542199.1:p.Val74Leu | |
| XM_011543898.1:c.-29-515G>C | XP_011542200.1:n.-29-515G>C | |
| XM_011543897.2:c.220G>C | XP_011542199.1:p.Val74Leu | |
| XM_011543898.2:c.-29-515G>C | XP_011542200.1:n.-29-515G>C | |
| XM_024452363.1:c.-29-515G>C | XP_024308131.1:n.-29-515G>C | |
| NM_002049.4:c.220G>C MANE Select | NP_002040.1:p.Val74Leu |