Linked Data
ClinVar Variation Id:
197829
dbSNP Id:
rs16891982
ExAC:
5:33951693 C / G
gnomAD v2:
5-33951693-C-G
gnomAD v3:
5-33951588-C-G
gnomAD v4:
5-33951588-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951588C>G , CM000667.2:g.33951588C>G | GRCh38 |
| NC_000005.9:g.33951693C>G , CM000667.1:g.33951693C>G | GRCh37 |
| NC_000005.8:g.33987450C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.1122G>C MANE Select | ENSP00000296589.4:p.Leu374Phe | |
| ENST00000296589.8:c.1122G>C | ENSP00000296589.4:p.Leu374Phe | |
| ENST00000382102.7:c.1122G>C | ENSP00000371534.3:p.Leu374Phe | |
| ENST00000509381.1:c.*64G>C | ENSP00000421100.1:n.*64G>C | |
| ENST00000510600.1:c.597G>C | ENSP00000424010.1:p.Leu199Phe | |
| XM_011514051.1:c.720G>C | XP_011512353.1:p.Leu240Phe | |
| XR_925620.1:n.1939G>C | ||
| NM_016180.5:c.1122G>C MANE Select | NP_057264.4:p.Leu374Phe | |
| NM_001012509.4:c.1122G>C | NP_001012527.2:p.Leu374Phe | |
| NM_001297417.3:c.*64G>C | NP_001284346.2:n.*64G>C | |
| NM_001297417.4:c.*64G>C | NP_001284346.2:n.*64G>C |