Linked Data
ClinVar Variation Id:
390566
ClinVar RCV Id:
RCV000443443
dbSNP Id:
rs1057523820
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41553740G>A , CM000685.2:g.41553740G>A | GRCh38 |
| NC_000023.10:g.41412993G>A , CM000685.1:g.41412993G>A | GRCh37 |
| NC_000023.9:g.41297937G>A | NCBI36 |
| NG_016754.1:g.374295C>T | |
| NG_016754.2:g.374295C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.1982C>T | ENSP00000367396.2:p.Pro661Leu | |
| ENST00000378158.6:c.1964C>T | ENSP00000367400.2:p.Pro655Leu | |
| ENST00000378163.7:c.2018C>T MANE Select | ENSP00000367405.1:p.Pro673Leu | |
| ENST00000378166.9:c.1931C>T | ENSP00000367408.5:p.Pro644Leu | |
| ENST00000378168.8:c.2036C>T | ENSP00000367410.4:p.Pro679Leu | |
| ENST00000378179.9:c.638C>T | ENSP00000367421.4:p.Pro213Leu | |
| ENST00000421587.8:c.1949C>T | ENSP00000400526.4:p.Pro650Leu | |
| ENST00000442742.7:c.1895C>T | ENSP00000398007.3:p.Pro632Leu | |
| ENST00000472704.3:n.560C>T | ||
| ENST00000642499.1:n.812C>T | ||
| ENST00000644219.1:c.2000C>T | ENSP00000495357.1:p.Pro667Leu | |
| ENST00000644347.1:c.1931C>T | ENSP00000494183.1:p.Pro644Leu | |
| ENST00000645566.1:c.2018C>T | ENSP00000494788.1:p.Pro673Leu | |
| ENST00000645937.2:n.2249C>T | ||
| ENST00000645986.2:c.2000C>T | ENSP00000494409.2:p.Pro667Leu | |
| ENST00000646087.2:c.1340C>T | ENSP00000495510.2:p.Pro447Leu | |
| ENST00000646120.2:c.1949C>T | ENSP00000495291.2:p.Pro650Leu | |
| ENST00000675354.1:c.1967C>T | ENSP00000502315.1:p.Pro656Leu | |
| ENST00000378158.5:c.1982C>T | ENSP00000367400.1:p.Pro661Leu | |
| ENST00000378163.5:c.2018C>T | ENSP00000367405.1:p.Pro673Leu | |
| ENST00000378166.8:c.2018C>T | ENSP00000367408.4:p.Pro673Leu | |
| ENST00000378168.6:c.383C>T | ENSP00000367410.2:p.Pro128Leu | |
| ENST00000378179.7:c.794C>T | ENSP00000367421.3:p.Pro265Leu | |
| ENST00000421587.6:c.1931C>T | ENSP00000400526.2:p.Pro644Leu | |
| ENST00000442742.6:c.1949C>T | ENSP00000398007.2:p.Pro650Leu | |
| ENST00000472704.1:n.560C>T | ||
| NM_001126054.2:c.1949C>T | NP_001119526.1:p.Pro650Leu | |
| NM_001126055.2:c.1931C>T | NP_001119527.1:p.Pro644Leu | |
| NM_003688.3:c.2018C>T | NP_003679.2:p.Pro673Leu | |
| XM_005272686.3:c.2000C>T | XP_005272743.1:p.Pro667Leu | |
| XM_006724566.2:c.1895C>T | XP_006724629.1:p.Pro632Leu | |
| XM_011543993.1:c.2018C>T | XP_011542295.1:p.Pro673Leu | |
| XM_011543994.1:c.1982C>T | XP_011542296.1:p.Pro661Leu | |
| XM_011543995.1:c.1949C>T | XP_011542297.1:p.Pro650Leu | |
| XM_011543996.1:c.1913C>T | XP_011542298.1:p.Pro638Leu | |
| XM_011543997.1:c.1445C>T | XP_011542299.1:p.Pro482Leu | |
| XM_005272686.4:c.2000C>T | XP_005272743.1:p.Pro667Leu | |
| XM_006724566.3:c.1895C>T | XP_006724629.1:p.Pro632Leu | |
| XM_011543993.2:c.2018C>T | XP_011542295.1:p.Pro673Leu | |
| XM_011543994.2:c.1982C>T | XP_011542296.1:p.Pro661Leu | |
| XM_011543995.2:c.1949C>T | XP_011542297.1:p.Pro650Leu | |
| XM_011543996.2:c.1913C>T | XP_011542298.1:p.Pro638Leu | |
| XM_011543997.3:c.1445C>T | XP_011542299.1:p.Pro482Leu | |
| XM_024452473.1:c.1340C>T | XP_024308241.1:p.Pro447Leu | |
| NM_001367721.1:c.2018C>T MANE Select | NP_001354650.1:p.Pro673Leu |