Linked Data
ClinVar Variation Id:
2634546
ClinVar RCV Id:
RCV003392823
dbSNP Id:
rs1645289441
gnomAD v4:
1-23310548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23310548G>A , CM000663.2:g.23310548G>A | GRCh38 |
| NC_000001.10:g.23637041G>A , CM000663.1:g.23637041G>A | GRCh37 |
| NC_000001.9:g.23509628G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463552.6:c.1694C>T | ENSP00000502509.2:p.Pro565Leu | |
| ENST00000470941.6:c.1631C>T | ENSP00000502234.2:p.Pro544Leu | |
| ENST00000476451.3:c.1505C>T | ENSP00000502301.2:p.Pro502Leu | |
| ENST00000302271.11:c.1808C>T MANE Select | ENSP00000304405.6:p.Pro603Leu | |
| ENST00000641107.1:c.410+280C>T | ||
| ENST00000675048.1:c.1352C>T | ENSP00000502029.1:p.Pro451Leu | |
| ENST00000302271.10:c.1808C>T | ENSP00000304405.6:p.Pro603Leu | |
| ENST00000374612.5:c.1808C>T | ENSP00000363741.1:p.Pro603Leu | |
| ENST00000374616.7:c.1817C>T | ENSP00000363745.3:p.Pro606Leu | |
| ENST00000427764.3:c.1694C>T | ENSP00000392799.2:p.Pro565Leu | |
| ENST00000476660.1:n.873C>T | ||
| ENST00000478691.5:c.1514C>T | ENSP00000474437.1:p.Pro505Leu | |
| ENST00000606561.5:c.1391C>T | ENSP00000475760.1:p.Pro464Leu | |
| NM_001102397.2:c.1505C>T | NP_001095867.1:p.Pro502Leu | |
| NM_001102398.2:c.1817C>T | NP_001095868.1:p.Pro606Leu | |
| NM_001102399.2:c.1514C>T | NP_001095869.1:p.Pro505Leu | |
| NM_001297620.1:c.1694C>T | NP_001284549.1:p.Pro565Leu | |
| NM_001297621.1:c.1328C>T | NP_001284550.1:p.Pro443Leu | |
| NM_001297622.1:c.1391C>T | NP_001284551.1:p.Pro464Leu | |
| NM_005826.4:c.1808C>T | NP_005817.1:p.Pro603Leu | |
| XM_005245711.3:c.1808C>T | XP_005245768.1:p.Pro603Leu | |
| XM_011540471.1:c.1817C>T | XP_011538773.1:p.Pro606Leu | |
| XM_011540472.1:c.1640C>T | XP_011538774.1:p.Pro547Leu | |
| XM_011540473.1:c.1631C>T | XP_011538775.1:p.Pro544Leu | |
| XM_011540474.1:c.1703C>T | XP_011538776.1:p.Pro568Leu | |
| XM_011540475.1:c.1703C>T | XP_011538777.1:p.Pro568Leu | |
| XM_011540476.1:c.1400C>T | XP_011538778.1:p.Pro467Leu | |
| XM_011540477.1:c.1337C>T | XP_011538779.1:p.Pro446Leu | |
| XM_005245711.5:c.1808C>T | XP_005245768.1:p.Pro603Leu | |
| XM_011540471.3:c.1817C>T | XP_011538773.1:p.Pro606Leu | |
| XM_011540472.3:c.1640C>T | XP_011538774.1:p.Pro547Leu | |
| XM_011540474.3:c.1703C>T | XP_011538776.1:p.Pro568Leu | |
| XM_011540475.3:c.1703C>T | XP_011538777.1:p.Pro568Leu | |
| XM_011540476.3:c.1400C>T | XP_011538778.1:p.Pro467Leu | |
| XM_011540477.3:c.1337C>T | XP_011538779.1:p.Pro446Leu | |
| XM_017000008.2:c.1694C>T | XP_016855497.1:p.Pro565Leu | |
| XM_017000009.2:c.1631C>T | XP_016855498.1:p.Pro544Leu | |
| XM_017000010.2:c.1631C>T | XP_016855499.1:p.Pro544Leu | |
| NM_005826.5:c.1808C>T MANE Select | NP_005817.1:p.Pro603Leu | |
| NM_001102397.3:c.1505C>T | NP_001095867.1:p.Pro502Leu | |
| NM_001102398.3:c.1817C>T | NP_001095868.1:p.Pro606Leu | |
| NM_001102399.3:c.1514C>T | NP_001095869.1:p.Pro505Leu | |
| NM_001297620.2:c.1694C>T | NP_001284549.1:p.Pro565Leu | |
| NM_001297621.2:c.1328C>T | NP_001284550.1:p.Pro443Leu | |
| NM_001297622.2:c.1391C>T | NP_001284551.1:p.Pro464Leu |