Linked Data
ClinVar Variation Id:
444553
dbSNP Id:
rs749633616
ExAC:
2:234240362 A / G
gnomAD v4:
2-233331716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233331716A>G , CM000664.2:g.233331716A>G | GRCh38 |
| NC_000002.11:g.234240362A>G , CM000664.1:g.234240362A>G | GRCh37 |
| NC_000002.10:g.233905101A>G | NCBI36 |
| NG_009116.1:g.29054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.806+4A>G MANE Select | ENSP00000386444.1:n.806+4A>G | |
| ENST00000409110.5:c.806+4A>G | ENSP00000386444.1:n.806+4A>G | |
| ENST00000412969.6:n.2026+4A>G | ||
| ENST00000469222.5:n.823+4A>G | ||
| ENST00000471884.5:n.2257+4A>G | ||
| ENST00000476500.5:n.3010A>G | ||
| ENST00000483231.5:n.190+4A>G | ||
| NM_000541.4:c.806+4A>G | NP_000532.2:n.806+4A>G | |
| XM_011511589.1:c.806+4A>G | XP_011509891.1:n.806+4A>G | |
| XM_011511590.1:c.806+4A>G | XP_011509892.1:n.806+4A>G | |
| XM_011511591.1:c.806+4A>G | XP_011509893.1:n.806+4A>G | |
| XM_011511592.1:c.650+4A>G | XP_011509894.1:n.650+4A>G | |
| XM_011511593.1:c.506+4A>G | XP_011509895.1:n.506+4A>G | |
| XM_011511594.1:c.434+4A>G | XP_011509896.1:n.434+4A>G | |
| XM_011511595.1:c.806+4A>G | XP_011509897.1:n.806+4A>G | |
| XM_011511596.1:c.404+4A>G | XP_011509898.1:n.404+4A>G | |
| XM_011511597.1:c.404+4A>G | XP_011509899.1:n.404+4A>G | |
| XR_922978.1:n.1002+4A>G | ||
| XR_922979.1:n.1002+4A>G | ||
| XR_922980.1:n.1101+4A>G | ||
| XM_011511593.3:c.506+4A>G | XP_011509895.1:n.506+4A>G | |
| XM_017004641.1:c.806+4A>G | XP_016860130.1:n.806+4A>G | |
| XM_017004642.1:c.806+4A>G | XP_016860131.1:n.806+4A>G | |
| XM_017004643.1:c.806+4A>G | XP_016860132.1:n.806+4A>G | |
| XM_024453036.1:c.404+4A>G | XP_024308804.1:n.404+4A>G | |
| XR_001738882.1:n.883+4A>G | ||
| XR_922980.2:n.1101+4A>G | ||
| NM_000541.5:c.806+4A>G MANE Select | NP_000532.2:n.806+4A>G |