Linked Data
ClinVar Variation Id:
949094
dbSNP Id:
rs752461029
gnomAD v2:
5-236675-C-A
gnomAD v4:
5-236560-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236560C>A , CM000667.2:g.236560C>A | GRCh38 |
| NC_000005.9:g.236675C>A , CM000667.1:g.236675C>A | GRCh37 |
| NC_000005.8:g.289675C>A | NCBI36 |
| NG_012339.1:g.23320C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1393C>A MANE Select | ENSP00000264932.6:p.Arg465= | |
| ENST00000651543.1:c.*126C>A | ENSP00000499215.1:n.*126C>A | |
| ENST00000264932.10:c.1393C>A | ENSP00000264932.6:p.Arg465= | |
| ENST00000504309.5:c.1393C>A | ENSP00000426514.1:p.Arg465= | |
| ENST00000505555.5:n.1433C>A | ||
| ENST00000510361.5:c.1249C>A | ENSP00000427703.1:p.Arg417= | |
| ENST00000511810.5:n.2140C>A | ||
| ENST00000514027.5:n.1348C>A | ||
| ENST00000515752.5:n.979C>A | ||
| ENST00000515815.5:c.48C>A | ||
| ENST00000617470.4:c.958C>A | ENSP00000484230.1:p.Arg320= | |
| NM_001294332.1:c.1249C>A | NP_001281261.1:p.Arg417= | |
| NM_004168.3:c.1393C>A | NP_004159.2:p.Arg465= | |
| XM_005248331.2:c.1393C>A | XP_005248388.1:p.Arg465= | |
| XM_011514072.1:c.1393C>A | XP_011512374.1:p.Arg465= | |
| XM_011514073.1:c.1393C>A | XP_011512375.1:p.Arg465= | |
| XR_925638.1:n.1526C>A | ||
| NM_001330758.1:c.1393C>A | NP_001317687.1:p.Arg465= | |
| XM_011514072.2:c.1393C>A | XP_011512374.1:p.Arg465= | |
| XM_011514073.2:c.1393C>A | XP_011512375.1:p.Arg465= | |
| XM_017009685.2:c.1393C>A | XP_016865174.1:p.Arg465= | |
| XM_024446143.1:c.1249C>A | XP_024301911.1:p.Arg417= | |
| XR_002956167.1:n.1440C>A | ||
| NM_004168.4:c.1393C>A MANE Select | NP_004159.2:p.Arg465= | |
| NM_001294332.2:c.1249C>A | NP_001281261.1:p.Arg417= | |
| NM_001330758.2:c.1393C>A | NP_001317687.1:p.Arg465= |