Linked Data
ClinVar Variation Id:
910526
ClinVar RCV Id:
RCV001162371
dbSNP Id:
rs536903750
gnomAD v2:
7-65425790-T-C
gnomAD v3:
7-65960803-T-C
gnomAD v4:
7-65960803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960803T>C , CM000669.2:g.65960803T>C | GRCh38 |
| NC_000007.13:g.65425790T>C , CM000669.1:g.65425790T>C | GRCh37 |
| NC_000007.12:g.65063225T>C | NCBI36 |
| NG_016197.1:g.26512A>G | |
| NG_051954.1:g.92705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.*94A>G MANE Select | ENSP00000302728.4:n.*94A>G | |
| ENST00000304895.8:c.*94A>G | ENSP00000302728.4:n.*94A>G | |
| ENST00000421103.5:c.*94A>G | ENSP00000391390.1:n.*94A>G | |
| ENST00000430730.5:c.*1317A>G | ENSP00000411859.1:n.*1317A>G | |
| ENST00000447929.5:c.*1430A>G | ENSP00000411262.1:n.*1430A>G | |
| ENST00000466883.5:n.2440A>G | ||
| NM_000181.3:c.*94A>G | NP_000172.2:n.*94A>G | |
| NM_001284290.1:c.*94A>G | NP_001271219.1:n.*94A>G | |
| NM_001293104.1:c.*94A>G | NP_001280033.1:n.*94A>G | |
| NM_001293105.1:c.*94A>G | NP_001280034.1:n.*94A>G | |
| NR_120531.1:n.2096A>G | ||
| XM_005250297.3:c.*94A>G | XP_005250354.1:n.*94A>G | |
| XM_011516113.1:c.*94A>G | XP_011514415.1:n.*94A>G | |
| XM_011516114.1:c.*94A>G | XP_011514416.1:n.*94A>G | |
| XM_005250297.4:c.*94A>G | XP_005250354.1:n.*94A>G | |
| XM_011516114.2:c.*94A>G | XP_011514416.1:n.*94A>G | |
| XM_017012091.1:c.*94A>G | XP_016867580.1:n.*94A>G | |
| XM_017012092.1:c.*94A>G | XP_016867581.1:n.*94A>G | |
| XM_017012093.2:c.*94A>G | XP_016867582.1:n.*94A>G | |
| XR_001744658.2:n.1857A>G | ||
| XR_001744659.2:n.1970A>G | ||
| XR_001744660.2:n.1902A>G | ||
| XR_001744661.2:n.1817A>G | ||
| XR_927461.3:n.2055A>G | ||
| NM_000181.4:c.*94A>G MANE Select | NP_000172.2:n.*94A>G | |
| NM_001284290.2:c.*94A>G | NP_001271219.1:n.*94A>G | |
| NM_001293104.2:c.*94A>G | NP_001280033.1:n.*94A>G | |
| NM_001293105.2:c.*94A>G | NP_001280034.1:n.*94A>G | |
| NR_120531.2:n.1995A>G |