Linked Data
ClinVar Variation Id:
720714
ClinVar RCV Id:
RCV000894069
dbSNP Id:
rs493573
ExAC:
11:64557054 C / T
gnomAD v2:
11-64557054-C-T
gnomAD v3:
11-64789582-C-T
gnomAD v4:
11-64789582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64789582C>T , CM000673.2:g.64789582C>T | GRCh38 |
| NC_000011.9:g.64557054C>T , CM000673.1:g.64557054C>T | GRCh37 |
| NC_000011.8:g.64313630C>T | NCBI36 |
| NG_033040.1:g.18660G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294066.7:c.2418G>A MANE Select | ENSP00000294066.2:p.Ala806= | |
| ENST00000294066.6:c.2418G>A | ENSP00000294066.2:p.Ala806= | |
| ENST00000377350.7:c.2394G>A | ENSP00000366567.3:p.Ala798= | |
| ENST00000424945.5:c.730G>A | ||
| ENST00000433890.5:c.2365G>A | ENSP00000413167.1:n.2365G>A | |
| ENST00000435926.5:c.*2218G>A | ENSP00000400594.1:n.*2218G>A | |
| ENST00000470088.5:n.1360G>A | ||
| NM_001307990.1:c.2394G>A | NP_001294919.1:p.Ala798= | |
| NM_004579.3:c.2418G>A | NP_004570.2:p.Ala806= | |
| NM_004579.4:c.2418G>A | NP_004570.2:p.Ala806= | |
| XM_011545202.1:c.2394G>A | XP_011543504.1:p.Ala798= | |
| XM_011545203.1:c.2349G>A | XP_011543505.1:p.Ala783= | |
| XM_011545204.1:c.2286G>A | XP_011543506.1:p.Ala762= | |
| XM_011545204.3:c.2286G>A | XP_011543506.1:p.Ala762= | |
| XM_017018093.2:c.2262G>A | XP_016873582.1:p.Ala754= | |
| XM_017018095.2:c.1818G>A | XP_016873584.1:p.Ala606= | |
| XM_024448629.1:c.2538G>A | XP_024304397.1:p.Ala846= | |
| XM_024448630.1:c.2469G>A | XP_024304398.1:p.Ala823= | |
| XM_024448631.1:c.2406G>A | XP_024304399.1:p.Ala802= | |
| XM_024448633.1:c.2007G>A | XP_024304401.1:p.Ala669= | |
| XR_002957155.1:n.2632G>A | ||
| NM_004579.5:c.2418G>A MANE Select | NP_004570.2:p.Ala806= | |
| NM_001307990.2:c.2394G>A | NP_001294919.1:p.Ala798= |