Linked Data
ClinVar Variation Id:
2878539
ClinVar RCV Id:
RCV003600230
dbSNP Id:
rs1306112081
gnomAD v2:
7-65446991-C-T
gnomAD v3:
7-65982004-C-T
gnomAD v4:
7-65982004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65982004C>T , CM000669.2:g.65982004C>T | GRCh38 |
| NC_000007.13:g.65446991C>T , CM000669.1:g.65446991C>T | GRCh37 |
| NC_000007.12:g.65084426C>T | NCBI36 |
| NG_016197.1:g.5311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.180G>A MANE Select | ENSP00000302728.4:p.Glu60= | |
| ENST00000304895.8:c.180G>A | ENSP00000302728.4:p.Glu60= | |
| ENST00000421103.5:c.180G>A | ENSP00000391390.1:p.Glu60= | |
| ENST00000430730.5:c.180G>A | ENSP00000411859.1:p.Glu60= | |
| ENST00000446111.1:c.180G>A | ENSP00000416793.1:p.Glu60= | |
| ENST00000447929.5:c.180G>A | ENSP00000411262.1:p.Glu60= | |
| ENST00000475316.5:n.85G>A | ||
| NM_000181.3:c.180G>A | NP_000172.2:p.Glu60= | |
| NM_001284290.1:c.180G>A | NP_001271219.1:p.Glu60= | |
| NM_001293104.1:c.-206G>A | NP_001280033.1:n.-206G>A | |
| NM_001293105.1:c.-150G>A | NP_001280034.1:n.-150G>A | |
| NR_120531.1:n.311G>A | ||
| XM_005250297.3:c.180G>A | XP_005250354.1:p.Glu60= | |
| XM_011516113.1:c.-150G>A | XP_011514415.1:n.-150G>A | |
| XR_927461.1:n.306G>A | ||
| XM_005250297.4:c.180G>A | XP_005250354.1:p.Glu60= | |
| XM_011516114.2:c.-506G>A | XP_011514416.1:n.-506G>A | |
| XM_017012091.1:c.-150G>A | XP_016867580.1:n.-150G>A | |
| XM_017012092.1:c.-206G>A | XP_016867581.1:n.-206G>A | |
| XM_017012093.2:c.-506G>A | XP_016867582.1:n.-506G>A | |
| XR_001744658.2:n.225G>A | ||
| XR_001744659.2:n.225G>A | ||
| XR_001744660.2:n.225G>A | ||
| XR_001744661.2:n.225G>A | ||
| XR_927461.3:n.225G>A | ||
| NM_000181.4:c.180G>A MANE Select | NP_000172.2:p.Glu60= | |
| NM_001284290.2:c.180G>A | NP_001271219.1:p.Glu60= | |
| NM_001293104.2:c.-206G>A | NP_001280033.1:n.-206G>A | |
| NM_001293105.2:c.-150G>A | NP_001280034.1:n.-150G>A | |
| NR_120531.2:n.210G>A |