Linked Data
ClinVar Variation Id:
1492506
ClinVar RCV Id:
RCV001981007
dbSNP Id:
rs750955623
ExAC:
7:65447164 G / A
gnomAD v2:
7-65447164-G-A
gnomAD v3:
7-65982177-G-A
gnomAD v4:
7-65982177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65982177G>A , CM000669.2:g.65982177G>A | GRCh38 |
| NC_000007.13:g.65447164G>A , CM000669.1:g.65447164G>A | GRCh37 |
| NC_000007.12:g.65084599G>A | NCBI36 |
| NG_016197.1:g.5138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.7C>T MANE Select | ENSP00000302728.4:p.Arg3Trp | |
| ENST00000304895.8:c.7C>T | ENSP00000302728.4:p.Arg3Trp | |
| ENST00000421103.5:c.7C>T | ENSP00000391390.1:p.Arg3Trp | |
| ENST00000430730.5:c.7C>T | ENSP00000411859.1:p.Arg3Trp | |
| ENST00000446111.1:c.7C>T | ENSP00000416793.1:p.Arg3Trp | |
| ENST00000447929.5:c.7C>T | ENSP00000411262.1:p.Arg3Trp | |
| NM_000181.3:c.7C>T | NP_000172.2:p.Arg3Trp | |
| NM_001284290.1:c.7C>T | NP_001271219.1:p.Arg3Trp | |
| NM_001293104.1:c.-379C>T | NP_001280033.1:n.-379C>T | |
| NM_001293105.1:c.-323C>T | NP_001280034.1:n.-323C>T | |
| NR_120531.1:n.138C>T | ||
| XM_005250297.3:c.7C>T | XP_005250354.1:p.Arg3Trp | |
| XM_011516113.1:c.-323C>T | XP_011514415.1:n.-323C>T | |
| XR_927461.1:n.133C>T | ||
| XM_005250297.4:c.7C>T | XP_005250354.1:p.Arg3Trp | |
| XM_011516114.2:c.-679C>T | XP_011514416.1:n.-679C>T | |
| XM_017012091.1:c.-323C>T | XP_016867580.1:n.-323C>T | |
| XM_017012092.1:c.-379C>T | XP_016867581.1:n.-379C>T | |
| XM_017012093.2:c.-679C>T | XP_016867582.1:n.-679C>T | |
| XR_001744658.2:n.52C>T | ||
| XR_001744659.2:n.52C>T | ||
| XR_001744660.2:n.52C>T | ||
| XR_001744661.2:n.52C>T | ||
| XR_927461.3:n.52C>T | ||
| NM_000181.4:c.7C>T MANE Select | NP_000172.2:p.Arg3Trp | |
| NM_001284290.2:c.7C>T | NP_001271219.1:p.Arg3Trp | |
| NM_001293104.2:c.-379C>T | NP_001280033.1:n.-379C>T | |
| NM_001293105.2:c.-323C>T | NP_001280034.1:n.-323C>T | |
| NR_120531.2:n.37C>T |