Linked Data
ClinVar Variation Id:
286426
dbSNP Id:
rs61752485
ExAC:
1:120480612 G / T
gnomAD v2:
1-120480612-G-T
gnomAD v3:
1-119937989-G-T
gnomAD v4:
1-119937989-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119937989G>T , CM000663.2:g.119937989G>T | GRCh38 |
| NC_000001.10:g.120480612G>T , CM000663.1:g.120480612G>T | GRCh37 |
| NC_000001.9:g.120282135G>T | NCBI36 |
| NG_008163.1:g.136665C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.3205C>A MANE Select | ENSP00000256646.2:p.Arg1069= | |
| ENST00000256646.6:c.3205C>A | ENSP00000256646.2:p.Arg1069= | |
| NM_001200001.1:c.3205C>A | NP_001186930.1:p.Arg1069= | |
| NM_024408.3:c.3205C>A | NP_077719.2:p.Arg1069= | |
| XM_005270901.2:c.3088C>A | XP_005270958.1:p.Arg1030= | |
| XM_011541519.1:c.3193C>A | XP_011539821.1:p.Arg1065= | |
| XM_011541520.1:c.3088C>A | XP_011539822.1:p.Arg1030= | |
| NM_024408.4:c.3205C>A MANE Select | NP_077719.2:p.Arg1069= | |
| NM_001200001.2:c.3205C>A | NP_001186930.1:p.Arg1069= |