Linked Data
ClinVar Variation Id:
3002299
ClinVar RCV Id:
RCV003865426
dbSNP Id:
rs1186250712
gnomAD v3:
7-87447109-T-C
gnomAD v4:
7-87447109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87447109T>C , CM000669.2:g.87447109T>C | GRCh38 |
| NC_000007.13:g.87076425T>C , CM000669.1:g.87076425T>C | GRCh37 |
| NC_000007.12:g.86914361T>C | NCBI36 |
| NG_007118.1:g.38324A>G | |
| NG_007118.2:g.38324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.930A>G | ENSP00000352135.3:p.Ala310= | |
| ENST00000643670.1:c.946A>G | ENSP00000496629.1:n.946A>G | |
| ENST00000644106.1:c.*467A>G | ENSP00000493477.1:n.*467A>G | |
| ENST00000649586.2:c.930A>G MANE Select | ENSP00000496956.2:p.Ala310= | |
| ENST00000265723.8:c.930A>G | ENSP00000265723.4:p.Ala310= | |
| ENST00000358400.7:c.930A>G | ENSP00000351172.3:p.Ala310= | |
| ENST00000359206.7:c.930A>G | ENSP00000352135.3:p.Ala310= | |
| ENST00000453593.5:c.930A>G | ENSP00000392983.1:p.Ala310= | |
| NM_000443.3:c.930A>G | NP_000434.1:p.Ala310= | |
| NM_018849.2:c.930A>G | NP_061337.1:p.Ala310= | |
| NM_018850.2:c.930A>G | NP_061338.1:p.Ala310= | |
| XM_011516308.1:c.930A>G | XP_011514610.1:p.Ala310= | |
| XM_011516309.1:c.930A>G | XP_011514611.1:p.Ala310= | |
| XM_011516310.1:c.930A>G | XP_011514612.1:p.Ala310= | |
| XM_011516311.1:c.930A>G | XP_011514613.1:p.Ala310= | |
| XM_011516312.1:c.930A>G | XP_011514614.1:p.Ala310= | |
| XM_011516313.1:c.930A>G | XP_011514615.1:p.Ala310= | |
| XM_011516314.1:c.951A>G | XP_011514616.1:p.Ala317= | |
| XM_011516315.1:c.270A>G | XP_011514617.1:p.Ala90= | |
| XR_927478.1:n.1026A>G | ||
| XM_011516308.3:c.1200A>G | XP_011514610.3:p.Ala400= | |
| XM_011516309.3:c.1200A>G | XP_011514611.3:p.Ala400= | |
| XM_011516310.3:c.1200A>G | XP_011514612.3:p.Ala400= | |
| XM_011516311.3:c.1200A>G | XP_011514613.3:p.Ala400= | |
| XM_011516312.3:c.1200A>G | XP_011514614.3:p.Ala400= | |
| XM_011516313.3:c.1200A>G | XP_011514615.2:p.Ala400= | |
| XM_011516315.3:c.270A>G | XP_011514617.2:p.Ala90= | |
| XM_017012323.2:c.930A>G | XP_016867812.1:p.Ala310= | |
| XR_001744809.2:n.1701A>G | ||
| XR_001744810.2:n.1696A>G | ||
| NM_000443.4:c.930A>G MANE Select | NP_000434.1:p.Ala310= | |
| NM_018849.3:c.930A>G | NP_061337.1:p.Ala310= | |
| NM_018850.3:c.930A>G | NP_061338.1:p.Ala310= |