Linked Data
ClinVar Variation Id:
382464
dbSNP Id:
rs2949961
ExAC:
2:109384848 A / G
gnomAD v2:
2-109384848-A-G
gnomAD v3:
2-108768392-A-G
gnomAD v4:
2-108768392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108768392A>G , CM000664.2:g.108768392A>G | GRCh38 |
| NC_000002.11:g.109384848A>G , CM000664.1:g.109384848A>G | GRCh37 |
| NC_000002.10:g.108751280A>G | NCBI36 |
| NG_012210.1:g.53912A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697737.1:c.2603-3309A>G | ENSP00000513426.1:n.2603-3309A>G | |
| ENST00000697740.1:c.2525-3309A>G | ENSP00000513427.1:n.2525-3309A>G | |
| ENST00000697744.1:c.2715+4A>G | ||
| ENST00000697745.1:c.2715+4A>G | ||
| ENST00000697746.1:n.665A>G | ||
| ENST00000697747.1:c.480+4A>G | ||
| ENST00000697748.1:n.155A>G | ||
| ENST00000283195.11:c.7849+4A>G MANE Select | ENSP00000283195.6:n.7849+4A>G | |
| ENST00000283195.10:c.7849+4A>G | ENSP00000283195.6:n.7849+4A>G | |
| NM_006267.4:c.7849+4A>G | NP_006258.3:n.7849+4A>G | |
| XM_005264002.1:c.7849+4A>G | XP_005264059.1:n.7849+4A>G | |
| XM_005264003.1:c.7849+4A>G | XP_005264060.1:n.7849+4A>G | |
| XM_005264004.1:c.7849+4A>G | XP_005264061.1:n.7849+4A>G | |
| XM_005264005.3:c.7771+4A>G | XP_005264062.1:n.7771+4A>G | |
| XM_005264007.1:c.4921+4A>G | XP_005264064.1:n.4921+4A>G | |
| XM_011511575.1:c.7846+4A>G | XP_011509877.1:n.7846+4A>G | |
| XM_011511576.1:c.7672+4A>G | XP_011509878.1:n.7672+4A>G | |
| XM_011511577.1:c.5137+4A>G | XP_011509879.1:n.5137+4A>G | |
| XM_011511578.1:c.4918+4A>G | XP_011509880.1:n.4918+4A>G | |
| XM_005264002.3:c.7849+4A>G | XP_005264059.1:n.7849+4A>G | |
| XM_005264003.3:c.7849+4A>G | XP_005264060.1:n.7849+4A>G | |
| XM_005264004.3:c.7849+4A>G | XP_005264061.1:n.7849+4A>G | |
| XM_005264005.4:c.7771+4A>G | XP_005264062.1:n.7771+4A>G | |
| XM_005264007.3:c.4921+4A>G | XP_005264064.1:n.4921+4A>G | |
| XM_011511575.2:c.7846+4A>G | XP_011509877.1:n.7846+4A>G | |
| XM_011511576.3:c.7672+4A>G | XP_011509878.1:n.7672+4A>G | |
| XM_011511578.2:c.4918+4A>G | XP_011509880.1:n.4918+4A>G | |
| XM_017004623.2:c.7849+4A>G | XP_016860112.1:n.7849+4A>G | |
| NM_006267.5:c.7849+4A>G MANE Select | NP_006258.3:n.7849+4A>G |