Linked Data
ClinVar Variation Id:
222994
dbSNP Id:
rs777295041
ExAC:
4:994668 A / G
gnomAD v2:
4-994668-A-G
gnomAD v3:
4-1000880-A-G
gnomAD v4:
4-1000880-A-G
PubMed:
PMID:20301341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1000880A>G , CM000666.2:g.1000880A>G | GRCh38 |
| NC_000004.11:g.994668A>G , CM000666.1:g.994668A>G | GRCh37 |
| NC_000004.10:g.984668A>G | NCBI36 |
| NG_008103.1:g.18884A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.386-2A>G | ENSP00000247933.4:n.386-2A>G | |
| ENST00000514224.2:c.386-2A>G MANE Select | ENSP00000425081.2:n.386-2A>G | |
| ENST00000652070.1:n.442-2A>G | ||
| ENST00000247933.8:c.386-2A>G | ENSP00000247933.4:n.386-2A>G | |
| ENST00000502910.5:c.245-2A>G | ENSP00000422952.1:n.245-2A>G | |
| ENST00000504568.5:c.346-2A>G | ||
| ENST00000506561.5:n.395-2A>G | ||
| ENST00000508168.5:n.264-2A>G | ||
| ENST00000509948.5:c.179-2A>G | ENSP00000424227.1:n.179-2A>G | |
| ENST00000514192.5:c.203-2A>G | ENSP00000423685.1:n.203-2A>G | |
| ENST00000514224.1:c.-11-2A>G | ENSP00000425081.1:n.-11-2A>G | |
| ENST00000514698.5:n.286-2A>G | ||
| NM_000203.4:c.386-2A>G | NP_000194.2:n.386-2A>G | |
| NR_110313.1:n.474-2A>G | ||
| XM_006713882.2:c.-11-2A>G | XP_006713945.1:n.-11-2A>G | |
| XM_011513459.1:c.245-2A>G | XP_011511761.1:n.245-2A>G | |
| XM_011513460.1:c.245-2A>G | XP_011511762.1:n.245-2A>G | |
| XM_011513461.1:c.179-2A>G | XP_011511763.1:n.179-2A>G | |
| XM_011513462.1:c.96A>G | XP_011511764.1:p.Pro32= | |
| XM_011513463.1:c.96A>G | XP_011511765.1:p.Pro32= | |
| XR_924947.1:n.455-2A>G | ||
| NM_000203.5:c.386-2A>G MANE Select | NP_000194.2:n.386-2A>G | |
| NM_001363576.1:c.-11-2A>G | NP_001350505.1:n.-11-2A>G | |
| XM_011513461.2:c.179-2A>G | XP_011511763.1:n.179-2A>G | |
| XM_017008163.1:c.-1081-2A>G | XP_016863652.1:n.-1081-2A>G |