Linked Data
ClinVar Variation Id:
261866
ClinVar RCV Id:
RCV000252308
RCV000263260
RCV000357935
RCV001518716
RCV001689917
RCV002244702
RCV002244701
dbSNP Id:
rs17584431
ExAC:
4:39207318 A / G
gnomAD v2:
4-39207318-A-G
gnomAD v3:
4-39205698-A-G
gnomAD v4:
4-39205698-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205698A>G , CM000666.2:g.39205698A>G | GRCh38 |
| NC_000004.11:g.39207318A>G , CM000666.1:g.39207318A>G | GRCh37 |
| NC_000004.10:g.38883713A>G | NCBI36 |
| NG_031813.1:g.28295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.852A>G MANE Select | ENSP00000382717.3:p.Ser284= | |
| ENST00000399820.7:c.852A>G | ENSP00000382717.3:p.Ser284= | |
| ENST00000503697.5:c.*320A>G | ENSP00000423706.1:n.*320A>G | |
| ENST00000506503.1:c.852A>G | ENSP00000423491.1:p.Ser284= | |
| ENST00000506869.5:c.*433A>G | ENSP00000424319.1:n.*433A>G | |
| ENST00000511729.5:n.41-22860A>G | ||
| ENST00000512448.1:n.446A>G | ||
| NM_025132.3:c.852A>G | NP_079408.3:p.Ser284= | |
| XM_011513724.1:c.852A>G | XP_011512026.1:p.Ser284= | |
| XM_011513725.1:c.786A>G | XP_011512027.1:p.Ser262= | |
| XM_011513726.1:c.372A>G | XP_011512028.1:p.Ser124= | |
| XM_011513727.1:c.372A>G | XP_011512029.1:p.Ser124= | |
| XM_011513728.1:c.372A>G | XP_011512030.1:p.Ser124= | |
| XM_011513729.1:c.852A>G | XP_011512031.1:p.Ser284= | |
| XR_925155.1:n.916A>G | ||
| NM_001317924.1:c.372A>G | NP_001304853.1:p.Ser124= | |
| XM_011513725.2:c.786A>G | XP_011512027.1:p.Ser262= | |
| XM_011513726.3:c.372A>G | XP_011512028.1:p.Ser124= | |
| XM_017008501.1:c.372A>G | XP_016863990.1:p.Ser124= | |
| XR_001741306.1:n.916A>G | ||
| XR_001741307.1:n.916A>G | ||
| XR_001741308.1:n.916A>G | ||
| XR_001741309.1:n.916A>G | ||
| XR_001741310.1:n.916A>G | ||
| XR_001741311.2:n.765A>G | ||
| XR_001741312.1:n.916A>G | ||
| NM_025132.4:c.852A>G MANE Select | NP_079408.3:p.Ser284= | |
| NM_001317924.2:c.372A>G | NP_001304853.1:p.Ser124= |