Linked Data
ClinVar Variation Id:
343637
ClinVar RCV Id:
RCV000356558
dbSNP Id:
rs141834169
gnomAD v2:
3-145787740-T-C
gnomAD v3:
3-146069953-T-C
gnomAD v4:
3-146069953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146069953T>C , CM000665.2:g.146069953T>C | GRCh38 |
| NC_000003.11:g.145787740T>C , CM000665.1:g.145787740T>C | GRCh37 |
| NC_000003.10:g.147270430T>C | NCBI36 |
| NG_009251.1:g.96543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469350.6:c.*764A>G | ENSP00000419963.2:n.*764A>G | |
| ENST00000480704.2:c.*2805A>G | ENSP00000419880.1:n.*2805A>G | |
| ENST00000703517.1:n.579+32802A>G | ||
| ENST00000703518.1:c.*764A>G | ENSP00000515350.1:n.*764A>G | |
| ENST00000703519.1:n.3058A>G | ||
| ENST00000703520.1:c.*1455A>G | ENSP00000515351.1:n.*1455A>G | |
| ENST00000703521.1:c.*2393A>G | ENSP00000515352.1:n.*2393A>G | |
| ENST00000703522.1:c.*764A>G | ENSP00000515353.1:n.*764A>G | |
| ENST00000703523.1:c.*764A>G | ENSP00000515354.1:n.*764A>G | |
| ENST00000703524.1:n.2891A>G | ||
| ENST00000703525.1:n.5393A>G | ||
| ENST00000703526.1:n.2409A>G | ||
| ENST00000703527.1:c.*764A>G | ENSP00000515355.1:n.*764A>G | |
| ENST00000703528.1:c.*123A>G | ENSP00000515356.1:n.*123A>G | |
| ENST00000706626.1:c.*764A>G | ENSP00000516472.1:n.*764A>G | |
| ENST00000706631.1:n.3486A>G | ||
| ENST00000706632.1:n.1905A>G | ||
| ENST00000706633.1:n.4013A>G | ||
| ENST00000706634.1:n.4202A>G | ||
| ENST00000706635.1:c.*764A>G | ENSP00000516475.1:n.*764A>G | |
| ENST00000706636.1:c.*2330A>G | ENSP00000516476.1:n.*2330A>G | |
| ENST00000282903.10:c.*764A>G MANE Select | ENSP00000282903.5:n.*764A>G | |
| ENST00000282903.9:c.*764A>G | ENSP00000282903.5:n.*764A>G | |
| ENST00000360060.7:c.*764A>G | ENSP00000353170.3:n.*764A>G | |
| ENST00000461497.5:c.*764A>G | ENSP00000419354.1:n.*764A>G | |
| NM_000935.2:c.*764A>G | NP_000926.2:n.*764A>G | |
| NM_182943.2:c.*764A>G | NP_891988.1:n.*764A>G | |
| XM_005247535.3:c.*764A>G | XP_005247592.1:n.*764A>G | |
| XM_005247535.4:c.*764A>G | XP_005247592.1:n.*764A>G | |
| XM_017006625.2:c.*764A>G | XP_016862114.1:n.*764A>G | |
| XM_024453599.1:c.*764A>G | XP_024309367.1:n.*764A>G | |
| XR_001740176.2:n.3309A>G | ||
| NM_182943.3:c.*764A>G MANE Select | NP_891988.1:n.*764A>G | |
| NM_000935.3:c.*764A>G | NP_000926.2:n.*764A>G |