Linked Data
ClinVar Variation Id:
261217
dbSNP Id:
rs2277405
ExAC:
12:22078838 T / G
gnomAD v2:
12-22078838-T-G
gnomAD v3:
12-21925904-T-G
gnomAD v4:
12-21925904-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21925904T>G , CM000674.2:g.21925904T>G | GRCh38 |
| NC_000012.11:g.22078838T>G , CM000674.1:g.22078838T>G | GRCh37 |
| NC_000012.10:g.21970105T>G | NCBI36 |
| NG_012819.1:g.15791A>C , LRG_377:g.15791A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.406+38A>C | ENSP00000261201.4:n.406+38A>C | |
| ENST00000621589.2:c.406+38A>C | ENSP00000480233.1:n.406+38A>C | |
| ENST00000682068.1:c.406+38A>C | ENSP00000507226.1:n.406+38A>C | |
| ENST00000682646.1:n.700A>C | ||
| ENST00000682789.1:n.657+38A>C | ||
| ENST00000682879.1:c.406+38A>C | ENSP00000508210.1:n.406+38A>C | |
| ENST00000683105.1:c.406+38A>C | ENSP00000506801.1:n.406+38A>C | |
| ENST00000683676.1:c.406+38A>C | ENSP00000508167.1:n.406+38A>C | |
| ENST00000684084.1:c.406+38A>C | ENSP00000507859.1:n.406+38A>C | |
| ENST00000684435.1:c.444A>C | ENSP00000507779.1:p.Arg148Ser | |
| ENST00000684543.1:n.751+38A>C | ||
| ENST00000261200.9:c.406+38A>C MANE Select | ENSP00000261200.4:n.406+38A>C | |
| ENST00000261201.9:c.406+38A>C | ENSP00000261201.4:n.406+38A>C | |
| ENST00000636888.1:c.406+38A>C | ENSP00000490640.1:n.406+38A>C | |
| ENST00000261200.8:c.406+38A>C | ENSP00000261200.4:n.406+38A>C | |
| ENST00000261201.8:c.406+38A>C | ENSP00000261201.4:n.406+38A>C | |
| ENST00000326684.8:c.406+38A>C | ENSP00000317518.4:n.406+38A>C | |
| ENST00000538350.5:c.406+38A>C | ENSP00000442604.1:n.406+38A>C | |
| ENST00000621589.1:c.406+38A>C | ENSP00000480233.1:n.406+38A>C | |
| NM_005691.3:c.406+38A>C | NP_005682.2:n.406+38A>C | |
| NM_020297.3:c.406+38A>C | NP_064693.2:n.406+38A>C | |
| XM_005253284.2:c.406+38A>C | XP_005253341.1:n.406+38A>C | |
| XM_005253286.2:c.406+38A>C | XP_005253343.1:n.406+38A>C | |
| XM_005253287.3:c.406+38A>C | XP_005253344.1:n.406+38A>C | |
| XM_005253288.2:c.406+38A>C | XP_005253345.1:n.406+38A>C | |
| XM_005253289.2:c.406+38A>C | XP_005253346.1:n.406+38A>C | |
| XM_005253290.2:c.406+38A>C | XP_005253347.1:n.406+38A>C | |
| XM_006719025.2:c.406+38A>C | XP_006719088.1:n.406+38A>C | |
| XM_011520545.1:c.406+38A>C | XP_011518847.1:n.406+38A>C | |
| XM_005253284.4:c.406+38A>C | XP_005253341.1:n.406+38A>C | |
| XM_005253286.4:c.406+38A>C | XP_005253343.1:n.406+38A>C | |
| XM_005253287.5:c.406+38A>C | XP_005253344.1:n.406+38A>C | |
| XM_005253288.4:c.406+38A>C | XP_005253345.1:n.406+38A>C | |
| XM_005253289.4:c.406+38A>C | XP_005253346.1:n.406+38A>C | |
| XM_005253290.4:c.406+38A>C | XP_005253347.1:n.406+38A>C | |
| XM_006719025.4:c.406+38A>C | XP_006719088.1:n.406+38A>C | |
| XM_011520545.3:c.406+38A>C | XP_011518847.1:n.406+38A>C | |
| NM_001377273.1:c.406+38A>C | NP_001364202.1:n.406+38A>C | |
| NM_001377274.1:c.-49+38A>C | NP_001364203.1:n.-49+38A>C | |
| NM_005691.4:c.406+38A>C | NP_005682.2:n.406+38A>C | |
| NM_020297.4:c.406+38A>C MANE Select | NP_064693.2:n.406+38A>C |