Linked Data
ClinVar Variation Id:
1946183
ClinVar RCV Id:
RCV002658715
dbSNP Id:
rs1260387556
gnomAD v2:
11-65307537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65540066G>A , CM000673.2:g.65540066G>A | GRCh38 |
| NC_000011.9:g.65307537G>A , CM000673.1:g.65307537G>A | GRCh37 |
| NC_000011.8:g.65064113G>A | NCBI36 |
| NG_016437.1:g.23163C>T | |
| NG_047172.1:g.20002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*2595C>T | ENSP00000435146.2:n.*2595C>T | |
| ENST00000526927.6:c.2389+179C>T | ENSP00000431219.2:n.2389+179C>T | |
| ENST00000529582.6:n.1374C>T | ||
| ENST00000530866.6:c.3065C>T | ENSP00000435276.2:p.Pro1022Leu | |
| ENST00000532661.6:c.253+179C>T | ENSP00000436341.2:n.253+179C>T | |
| ENST00000685178.1:n.2916+179C>T | ||
| ENST00000688764.1:n.1745+179C>T | ||
| ENST00000689505.1:c.3209C>T | ENSP00000510401.1:p.Pro1070Leu | |
| ENST00000301873.11:c.3332C>T MANE Select | ENSP00000301873.5:p.Pro1111Leu | |
| ENST00000301873.9:c.3332C>T | ENSP00000301873.5:p.Pro1111Leu | |
| ENST00000322147.8:c.3244+179C>T | ENSP00000326647.4:n.3244+179C>T | |
| ENST00000526927.5:c.2195+179C>T | ||
| ENST00000528516.5:c.*2889+179C>T | ENSP00000432350.1:n.*2889+179C>T | |
| ENST00000529189.5:c.253+179C>T | ENSP00000434406.1:n.253+179C>T | |
| ENST00000529371.5:c.4+179C>T | ENSP00000436032.1:n.4+179C>T | |
| ENST00000529582.5:n.1046C>T | ||
| ENST00000530785.5:c.341C>T | ENSP00000434315.1:p.Pro114Leu | |
| ENST00000530866.5:c.3065C>T | ENSP00000435276.1:p.Pro1022Leu | |
| ENST00000532661.5:c.253+179C>T | ENSP00000436341.1:n.253+179C>T | |
| ENST00000532932.5:c.1622C>T | ENSP00000435530.1:p.Pro541Leu | |
| ENST00000536982.5:c.341C>T | ENSP00000441912.2:p.Pro114Leu | |
| NM_001130144.2:c.3332C>T | NP_001123616.1:p.Pro1111Leu | |
| NM_001164266.1:c.2893+179C>T | NP_001157738.1:n.2893+179C>T | |
| NM_021070.4:c.3244+179C>T | NP_066548.2:n.3244+179C>T | |
| XM_011545032.1:c.3359C>T | XP_011543334.1:p.Pro1120Leu | |
| XM_011545033.1:c.3271+179C>T | XP_011543335.1:n.3271+179C>T | |
| XM_011545032.2:c.3359C>T | XP_011543334.1:p.Pro1120Leu | |
| XM_011545033.3:c.3271+179C>T | XP_011543335.1:n.3271+179C>T | |
| XR_001747875.2:n.3799C>T | ||
| XR_949928.3:n.3711+179C>T | ||
| NM_001130144.3:c.3332C>T MANE Select | NP_001123616.1:p.Pro1111Leu |