Linked Data
ClinVar Variation Id:
189380
ClinVar RCV Id:
RCV000169777
dbSNP Id:
rs374400438
ExAC:
4:39201096 A / G
gnomAD v2:
4-39201096-A-G
gnomAD v4:
4-39199476-A-G
PubMed:
PMID:23683095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39199476A>G , CM000666.2:g.39199476A>G | GRCh38 |
| NC_000004.11:g.39201096A>G , CM000666.1:g.39201096A>G | GRCh37 |
| NC_000004.10:g.38877491A>G | NCBI36 |
| NG_031813.1:g.22073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.407-2A>G MANE Select | ENSP00000382717.3:n.407-2A>G | |
| ENST00000399820.7:c.407-2A>G | ENSP00000382717.3:n.407-2A>G | |
| ENST00000503697.5:c.291-4166A>G | ENSP00000423706.1:n.291-4166A>G | |
| ENST00000505055.5:c.225-2A>G | ENSP00000425949.1:n.225-2A>G | |
| ENST00000506503.1:c.407-2A>G | ENSP00000423491.1:n.407-2A>G | |
| ENST00000506869.5:c.291-2A>G | ENSP00000424319.1:n.291-2A>G | |
| ENST00000509560.5:c.230-2A>G | ENSP00000426918.1:n.230-2A>G | |
| ENST00000511729.5:n.40+16913A>G | ||
| ENST00000512112.5:c.-74-2A>G | ENSP00000421888.1:n.-74-2A>G | |
| NM_025132.3:c.407-2A>G | NP_079408.3:n.407-2A>G | |
| XM_011513724.1:c.407-2A>G | XP_011512026.1:n.407-2A>G | |
| XM_011513725.1:c.341-2A>G | XP_011512027.1:n.341-2A>G | |
| XM_011513726.1:c.-74-2A>G | XP_011512028.1:n.-74-2A>G | |
| XM_011513727.1:c.-74-2A>G | XP_011512029.1:n.-74-2A>G | |
| XM_011513728.1:c.-74-2A>G | XP_011512030.1:n.-74-2A>G | |
| XM_011513729.1:c.407-2A>G | XP_011512031.1:n.407-2A>G | |
| XR_925155.1:n.471-2A>G | ||
| NM_001317924.1:c.-74-2A>G | NP_001304853.1:n.-74-2A>G | |
| XM_011513725.2:c.341-2A>G | XP_011512027.1:n.341-2A>G | |
| XM_011513726.3:c.-74-2A>G | XP_011512028.1:n.-74-2A>G | |
| XM_017008501.1:c.-74-2A>G | XP_016863990.1:n.-74-2A>G | |
| XR_001741306.1:n.471-2A>G | ||
| XR_001741307.1:n.471-2A>G | ||
| XR_001741308.1:n.471-2A>G | ||
| XR_001741309.1:n.471-2A>G | ||
| XR_001741310.1:n.471-2A>G | ||
| XR_001741311.2:n.320-2A>G | ||
| XR_001741312.1:n.471-2A>G | ||
| NM_025132.4:c.407-2A>G MANE Select | NP_079408.3:n.407-2A>G | |
| NM_001317924.2:c.-74-2A>G | NP_001304853.1:n.-74-2A>G |