Linked Data
dbSNP Id:
rs778971280
ExAC:
1:67724734 T / C
gnomAD v2:
1-67724734-T-C
gnomAD v3:
1-67259051-T-C
gnomAD v4:
1-67259051-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259051T>C , CM000663.2:g.67259051T>C | GRCh38 |
| NC_000001.10:g.67724734T>C , CM000663.1:g.67724734T>C | GRCh37 |
| NC_000001.9:g.67497322T>C | NCBI36 |
| NG_011498.1:g.97566T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1652T>C | ENSP00000513138.1:n.1652T>C | |
| ENST00000697150.1:c.1710T>C | ENSP00000513139.1:n.1710T>C | |
| ENST00000697151.1:c.1643T>C | ENSP00000513140.1:n.1643T>C | |
| ENST00000697164.1:c.1723T>C | ENSP00000513153.1:p.Leu575= | |
| ENST00000697165.1:c.1510T>C | ENSP00000513154.1:p.Leu504= | |
| ENST00000347310.10:c.1813T>C MANE Select | ENSP00000321345.5:p.Leu605= | |
| ENST00000637002.1:c.1204T>C | ENSP00000490340.1:p.Leu402= | |
| ENST00000347310.9:c.1813T>C | ENSP00000321345.5:p.Leu605= | |
| ENST00000395227.2:c.607T>C | ENSP00000378652.2:p.Leu203= | |
| ENST00000425614.3:c.1048T>C | ENSP00000387640.2:p.Leu350= | |
| ENST00000473881.2:c.*639T>C | ENSP00000486667.1:n.*639T>C | |
| NM_144701.2:c.1813T>C | NP_653302.2:p.Leu605= | |
| XM_005270516.2:c.1051T>C | XP_005270573.1:p.Leu351= | |
| XM_011540789.1:c.1903T>C | XP_011539091.1:p.Leu635= | |
| XM_011540790.1:c.1813T>C | XP_011539092.1:p.Leu605= | |
| XM_011540791.1:c.1813T>C | XP_011539093.1:p.Leu605= | |
| XM_011540790.3:c.1813T>C | XP_011539092.1:p.Leu605= | |
| XM_011540791.3:c.1813T>C | XP_011539093.1:p.Leu605= | |
| XR_001736993.1:n.1893T>C | ||
| NM_144701.3:c.1813T>C MANE Select | NP_653302.2:p.Leu605= |