Linked Data
ClinVar Variation Id:
238165
ClinVar RCV Id:
RCV000228300
dbSNP Id:
rs777881622
ExAC:
8:31030522 A / G
gnomAD v2:
8-31030522-A-G
gnomAD v4:
8-31173006-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31173006A>G , CM000670.2:g.31173006A>G | GRCh38 |
| NC_000008.10:g.31030522A>G , CM000670.1:g.31030522A>G | GRCh37 |
| NC_000008.9:g.31150064A>G | NCBI36 |
| NG_008870.1:g.144745A>G , LRG_524:g.144745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4203A>G MANE Select | ENSP00000298139.5:p.Ala1401= | |
| ENST00000650667.1:c.*3817A>G | ENSP00000498593.1:n.*3817A>G | |
| ENST00000651946.1:n.427A>G | ||
| ENST00000298139.5:c.4203A>G | ENSP00000298139.5:p.Ala1401= | |
| ENST00000521620.5:n.2836A>G | ||
| NM_000553.4:c.4203A>G , LRG_524t1:c.4203A>G | NP_000544.2:p.Ala1401= | |
| XM_011544639.1:c.4122A>G | XP_011542941.1:p.Ala1374= | |
| XM_011544640.1:c.2604A>G | XP_011542942.1:p.Ala868= | |
| XR_949643.1:n.88-1688T>C | ||
| XR_949644.1:n.88-1688T>C | ||
| XR_949645.1:n.88-1688T>C | ||
| XR_949646.1:n.88-1688T>C | ||
| XR_949647.1:n.701-1688T>C | ||
| XR_949648.1:n.603-1688T>C | ||
| NM_000553.5:c.4203A>G | NP_000544.2:p.Ala1401= | |
| XM_011544639.3:c.4122A>G | XP_011542941.1:p.Ala1374= | |
| XM_024447265.1:c.3993A>G | XP_024303033.1:p.Ala1331= | |
| NM_000553.6:c.4203A>G MANE Select | NP_000544.2:p.Ala1401= |