Linked Data
ClinVar Variation Id:
2806351
ClinVar RCV Id:
RCV003755356
dbSNP Id:
rs371704379
ExAC:
2:128399750 G / A
gnomAD v2:
2-128399750-G-A
gnomAD v3:
2-127642175-G-A
gnomAD v4:
2-127642175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127642175G>A , CM000664.2:g.127642175G>A | GRCh38 |
| NC_000002.11:g.128399750G>A , CM000664.1:g.128399750G>A | GRCh37 |
| NC_000002.10:g.128116220G>A | NCBI36 |
| NG_042235.1:g.44612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.534C>T MANE Select | ENSP00000347240.4:p.Arg178= | |
| ENST00000324938.9:c.606C>T | ENSP00000326888.5:p.Arg202= | |
| ENST00000355119.8:c.534C>T | ENSP00000347240.4:p.Arg178= | |
| ENST00000409254.1:c.78C>T | ENSP00000386907.1:p.Arg26= | |
| ENST00000409286.5:c.78C>T | ENSP00000386252.1:p.Arg26= | |
| ENST00000409455.5:c.519C>T | ENSP00000386383.1:p.Arg173= | |
| ENST00000409754.5:c.78C>T | ENSP00000386345.1:p.Arg26= | |
| ENST00000409808.6:c.519C>T | ENSP00000386637.2:p.Arg173= | |
| ENST00000410011.5:c.519C>T | ENSP00000387002.1:p.Arg173= | |
| ENST00000410038.5:c.78C>T | ENSP00000386570.1:p.Arg26= | |
| ENST00000413578.5:c.53+748C>T | ENSP00000388611.1:n.53+748C>T | |
| ENST00000466410.5:n.670C>T | ||
| ENST00000469300.6:n.2275C>T | ||
| ENST00000476932.5:n.922C>T | ||
| ENST00000484252.5:n.177C>T | ||
| ENST00000545738.6:c.600C>T | ENSP00000443794.2:p.Arg200= | |
| ENST00000582671.1:n.481C>T | ||
| ENST00000612860.4:c.258C>T | ENSP00000484949.1:p.Arg86= | |
| NM_001136037.2:c.600C>T | NP_001129509.2:p.Arg200= | |
| NM_001161403.1:c.534C>T | NP_001154875.1:p.Arg178= | |
| NM_001161404.1:c.519C>T | NP_001154876.1:p.Arg173= | |
| NM_001256542.1:c.78C>T | NP_001243471.1:p.Arg26= | |
| NM_017980.4:c.606C>T | NP_060450.2:p.Arg202= | |
| XM_005263709.2:c.519C>T | XP_005263766.1:p.Arg173= | |
| XM_005263710.2:c.327C>T | XP_005263767.1:p.Arg109= | |
| XM_006712627.2:c.186C>T | XP_006712690.1:p.Arg62= | |
| XM_011511453.1:c.581+748C>T | XP_011509755.1:n.581+748C>T | |
| XR_922961.1:n.670C>T | ||
| XM_006712627.4:c.186C>T | XP_006712690.1:p.Arg62= | |
| XM_024452983.1:c.519C>T | XP_024308751.1:p.Arg173= | |
| XM_024452984.1:c.519C>T | XP_024308752.1:p.Arg173= | |
| XM_024452985.1:c.78C>T | XP_024308753.1:p.Arg26= | |
| XM_024452986.1:c.78C>T | XP_024308754.1:p.Arg26= | |
| XR_922961.2:n.670C>T | ||
| NM_001136037.3:c.600C>T | NP_001129509.2:p.Arg200= | |
| NM_001161403.2:c.534C>T | NP_001154875.1:p.Arg178= | |
| NM_001136037.4:c.600C>T | NP_001129509.2:p.Arg200= | |
| NM_001161403.3:c.534C>T MANE Select | NP_001154875.1:p.Arg178= | |
| NM_001161404.2:c.519C>T | NP_001154876.1:p.Arg173= | |
| NM_001256542.2:c.78C>T | NP_001243471.1:p.Arg26= | |
| NM_017980.5:c.606C>T | NP_060450.2:p.Arg202= |