Linked Data
ClinVar Variation Id:
2358547
ClinVar RCV Id:
RCV002983449
dbSNP Id:
rs764049309
ExAC:
1:8420418 G / A
gnomAD v2:
1-8420418-G-A
gnomAD v3:
1-8360358-G-A
gnomAD v4:
1-8360358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8360358G>A , CM000663.2:g.8360358G>A | GRCh38 |
| NC_000001.10:g.8420418G>A , CM000663.1:g.8420418G>A | GRCh37 |
| NC_000001.9:g.8343005G>A | NCBI36 |
| NG_047035.1:g.462334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1487C>T | ENSP00000515651.1:p.Pro496Leu | |
| ENST00000400908.7:c.3149C>T MANE Select | ENSP00000383700.2:p.Pro1050Leu | |
| ENST00000337907.7:c.3149C>T | ENSP00000338629.3:p.Pro1050Leu | |
| ENST00000377464.5:c.2345C>T | ENSP00000366684.1:p.Pro782Leu | |
| ENST00000400907.6:c.1540+4388C>T | ENSP00000383699.2:n.1540+4388C>T | |
| ENST00000400908.6:c.3149C>T | ENSP00000383700.2:p.Pro1050Leu | |
| ENST00000476556.5:c.1487C>T | ENSP00000422246.1:p.Pro496Leu | |
| ENST00000505225.1:c.307+1102C>T | ENSP00000423451.1:n.307+1102C>T | |
| NM_001042681.1:c.3149C>T | NP_001036146.1:p.Pro1050Leu | |
| NM_001042682.1:c.1487C>T | NP_001036147.1:p.Pro496Leu | |
| NM_012102.3:c.3149C>T | NP_036234.3:p.Pro1050Leu | |
| XM_005263464.1:c.3149C>T | XP_005263521.1:p.Pro1050Leu | |
| XM_005263466.1:c.2345C>T | XP_005263523.1:p.Pro782Leu | |
| XM_006710653.1:c.3149C>T | XP_006710716.1:p.Pro1050Leu | |
| XM_011541510.1:c.3023C>T | XP_011539812.1:p.Pro1008Leu | |
| XM_011541511.1:c.3149C>T | XP_011539813.1:p.Pro1050Leu | |
| XM_005263464.2:c.3149C>T | XP_005263521.1:p.Pro1050Leu | |
| XM_011541510.2:c.3023C>T | XP_011539812.1:p.Pro1008Leu | |
| XM_011541511.2:c.3149C>T | XP_011539813.1:p.Pro1050Leu | |
| XM_017001358.1:c.3149C>T | XP_016856847.1:p.Pro1050Leu | |
| XM_017001359.1:c.3149C>T | XP_016856848.1:p.Pro1050Leu | |
| NM_001042681.2:c.3149C>T MANE Select | NP_001036146.1:p.Pro1050Leu | |
| NM_001042682.2:c.1487C>T | NP_001036147.1:p.Pro496Leu | |
| NM_012102.4:c.3149C>T | NP_036234.3:p.Pro1050Leu |