Linked Data
dbSNP Id:
rs780518224
ExAC:
3:148727211 A / G
gnomAD v2:
3-148727211-A-G
gnomAD v3:
3-149009424-A-G
gnomAD v4:
3-149009424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149009424A>G , CM000665.2:g.149009424A>G | GRCh38 |
| NC_000003.11:g.148727211A>G , CM000665.1:g.148727211A>G | GRCh37 |
| NC_000003.10:g.150209901A>G | NCBI36 |
| NG_027677.1:g.23017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345003.9:c.608+22A>G MANE Select | ENSP00000340736.4:n.608+22A>G | |
| ENST00000296048.10:c.608+22A>G | ENSP00000296048.6:n.608+22A>G | |
| ENST00000345003.8:c.608+22A>G | ENSP00000340736.4:n.608+22A>G | |
| ENST00000461191.1:c.596+22A>G | ENSP00000420247.1:n.596+22A>G | |
| ENST00000469873.1:n.522+22A>G | ||
| ENST00000479119.1:n.224+22A>G | ||
| ENST00000483267.5:c.469+12532A>G | ENSP00000419499.1:n.469+12532A>G | |
| ENST00000484197.5:c.608+22A>G | ENSP00000420683.1:n.608+22A>G | |
| ENST00000627418.2:c.469+12532A>G | ENSP00000486061.1:n.469+12532A>G | |
| NM_001184720.1:c.608+22A>G | NP_001171649.1:n.608+22A>G | |
| NM_001184721.1:c.608+22A>G | NP_001171650.1:n.608+22A>G | |
| NM_004130.3:c.608+22A>G | NP_004121.2:n.608+22A>G | |
| XM_017006275.1:c.431+22A>G | XP_016861764.1:n.431+22A>G | |
| XM_017006276.1:c.146+22A>G | XP_016861765.1:n.146+22A>G | |
| NM_004130.4:c.608+22A>G MANE Select | NP_004121.2:n.608+22A>G | |
| NM_001184720.2:c.608+22A>G | NP_001171649.1:n.608+22A>G | |
| NM_001184721.2:c.608+22A>G | NP_001171650.1:n.608+22A>G |