Linked Data
ClinVar Variation Id:
344301
dbSNP Id:
rs115605600
ExAC:
3:182733225 T / A
gnomAD v2:
3-182733225-T-A
gnomAD v3:
3-183015437-T-A
gnomAD v4:
3-183015437-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183015437T>A , CM000665.2:g.183015437T>A | GRCh38 |
| NC_000003.11:g.182733225T>A , CM000665.1:g.182733225T>A | GRCh37 |
| NC_000003.10:g.184215919T>A | NCBI36 |
| NG_008100.1:g.89141A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.*1A>T MANE Select | ENSP00000265594.4:n.*1A>T | |
| ENST00000265594.8:c.*1A>T | ENSP00000265594.4:n.*1A>T | |
| ENST00000464601.5:n.611A>T | ||
| ENST00000492597.5:c.*1A>T | ENSP00000419898.1:n.*1A>T | |
| ENST00000497830.5:c.*1776A>T | ENSP00000420088.1:n.*1776A>T | |
| ENST00000497959.5:c.*640A>T | ENSP00000420648.1:n.*640A>T | |
| ENST00000539926.5:c.*1A>T | ENSP00000441253.2:n.*1A>T | |
| ENST00000610757.4:c.*1A>T | ENSP00000480435.1:n.*1A>T | |
| ENST00000629669.2:c.*543A>T | ENSP00000486824.1:n.*543A>T | |
| NM_001293273.1:c.*1A>T | NP_001280202.1:n.*1A>T | |
| NM_020166.4:c.*1A>T | NP_064551.3:n.*1A>T | |
| NR_120639.1:n.2043A>T | ||
| NR_120640.1:n.2726A>T | ||
| XM_006713702.1:c.*1A>T | XP_006713765.1:n.*1A>T | |
| XM_011512992.1:c.*1A>T | XP_011511294.1:n.*1A>T | |
| XR_241502.2:n.2109A>T | ||
| NM_001363880.1:c.*1A>T | NP_001350809.1:n.*1A>T | |
| XM_011512992.2:c.*1A>T | XP_011511294.1:n.*1A>T | |
| XR_001740207.2:n.2399A>T | ||
| XR_001740208.2:n.2252A>T | ||
| XR_001740209.2:n.2005A>T | ||
| XR_001740210.1:n.2082A>T | ||
| XR_241502.3:n.2055A>T | ||
| NM_020166.5:c.*1A>T MANE Select | NP_064551.3:n.*1A>T | |
| NM_001293273.2:c.*1A>T | NP_001280202.1:n.*1A>T | |
| NR_120639.2:n.1952A>T | ||
| NR_120640.2:n.2726A>T |