Linked Data
ClinVar Variation Id:
2912253
ClinVar RCV Id:
RCV003747576
dbSNP Id:
rs973515982
gnomAD v2:
4-88929423-C-G
gnomAD v3:
4-88008271-C-G
gnomAD v4:
4-88008271-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008271C>G , CM000666.2:g.88008271C>G | GRCh38 |
| NC_000004.11:g.88929423C>G , CM000666.1:g.88929423C>G | GRCh37 |
| NC_000004.10:g.89148447C>G | NCBI36 |
| NG_008604.1:g.5604C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.538C>G MANE Select | ENSP00000237596.2:p.Leu180Val | |
| ENST00000237596.6:c.538C>G | ENSP00000237596.2:p.Leu180Val | |
| ENST00000506727.1:n.40C>G | ||
| NM_000297.3:c.538C>G | NP_000288.1:p.Leu180Val | |
| XM_011532028.1:c.538C>G | XP_011530330.1:p.Leu180Val | |
| XR_244632.2:n.633C>G | ||
| NR_156488.1:n.625C>G | ||
| XM_011532028.2:c.538C>G | XP_011530330.1:p.Leu180Val | |
| NM_000297.4:c.538C>G MANE Select | NP_000288.1:p.Leu180Val | |
| NR_156488.2:n.637C>G |