Linked Data
ClinVar Variation Id:
344300
ClinVar RCV Id:
RCV000307889
dbSNP Id:
rs186406584
ExAC:
3:182733181 T / A
gnomAD v2:
3-182733181-T-A
gnomAD v3:
3-183015393-T-A
gnomAD v4:
3-183015393-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183015393T>A , CM000665.2:g.183015393T>A | GRCh38 |
| NC_000003.11:g.182733181T>A , CM000665.1:g.182733181T>A | GRCh37 |
| NC_000003.10:g.184215875T>A | NCBI36 |
| NG_008100.1:g.89185A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.*45A>T MANE Select | ENSP00000265594.4:n.*45A>T | |
| ENST00000265594.8:c.*45A>T | ENSP00000265594.4:n.*45A>T | |
| ENST00000464601.5:n.655A>T | ||
| ENST00000492597.5:c.*45A>T | ENSP00000419898.1:n.*45A>T | |
| ENST00000497830.5:c.*1820A>T | ENSP00000420088.1:n.*1820A>T | |
| ENST00000497959.5:c.*684A>T | ENSP00000420648.1:n.*684A>T | |
| ENST00000539926.5:c.*45A>T | ENSP00000441253.2:n.*45A>T | |
| ENST00000610757.4:c.*45A>T | ENSP00000480435.1:n.*45A>T | |
| ENST00000629669.2:c.*587A>T | ENSP00000486824.1:n.*587A>T | |
| NM_001293273.1:c.*45A>T | NP_001280202.1:n.*45A>T | |
| NM_020166.4:c.*45A>T | NP_064551.3:n.*45A>T | |
| NR_120639.1:n.2087A>T | ||
| NR_120640.1:n.2770A>T | ||
| XM_006713702.1:c.*45A>T | XP_006713765.1:n.*45A>T | |
| XM_011512992.1:c.*45A>T | XP_011511294.1:n.*45A>T | |
| XR_241502.2:n.2153A>T | ||
| NM_001363880.1:c.*45A>T | NP_001350809.1:n.*45A>T | |
| XM_011512992.2:c.*45A>T | XP_011511294.1:n.*45A>T | |
| XR_001740207.2:n.2443A>T | ||
| XR_001740208.2:n.2296A>T | ||
| XR_001740209.2:n.2049A>T | ||
| XR_001740210.1:n.2126A>T | ||
| XR_241502.3:n.2099A>T | ||
| NM_020166.5:c.*45A>T MANE Select | NP_064551.3:n.*45A>T | |
| NM_001293273.2:c.*45A>T | NP_001280202.1:n.*45A>T | |
| NR_120639.2:n.1996A>T | ||
| NR_120640.2:n.2770A>T |