Linked Data
ClinVar Variation Id:
460993
dbSNP Id:
rs1282821765
gnomAD v3:
16-23603626-A-G
gnomAD v4:
16-23603626-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603626A>G , CM000678.2:g.23603626A>G | GRCh38 |
| NC_000016.9:g.23614947A>G , CM000678.1:g.23614947A>G | GRCh37 |
| NC_000016.8:g.23522448A>G | NCBI36 |
| NG_007406.1:g.42732T>C , LRG_308:g.42732T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3400T>C | ENSP00000460666.3:p.Leu1134= | |
| ENST00000565038.2:c.*879T>C | ENSP00000459882.2:n.*879T>C | |
| ENST00000566069.6:c.*29T>C | ENSP00000459237.2:n.*29T>C | |
| ENST00000697377.2:c.3238T>C | ENSP00000513286.2:p.Leu1080= | |
| ENST00000697379.2:c.3400T>C | ENSP00000513287.2:p.Leu1134= | |
| ENST00000561514.2:c.2509T>C | ENSP00000460666.2:p.Leu837= | |
| ENST00000697374.1:c.2509T>C | ENSP00000513284.1:p.Leu837= | |
| ENST00000697375.1:n.4741T>C | ||
| ENST00000697376.1:c.*29T>C | ENSP00000513285.1:n.*29T>C | |
| ENST00000697377.1:c.2347T>C | ENSP00000513286.1:p.Leu783= | |
| ENST00000697378.1:n.3914T>C | ||
| ENST00000697379.1:c.2509T>C | ENSP00000513287.1:p.Leu837= | |
| ENST00000697380.1:n.2598T>C | ||
| ENST00000697381.1:n.2089T>C | ||
| ENST00000697382.1:c.*171T>C | ENSP00000513288.1:n.*171T>C | |
| ENST00000697383.1:c.928T>C | ENSP00000513289.1:p.Leu310= | |
| ENST00000261584.9:c.3394T>C MANE Select | ENSP00000261584.4:p.Leu1132= | |
| ENST00000261584.8:c.3394T>C | ENSP00000261584.4:p.Leu1132= | |
| ENST00000566069.5:c.160T>C | ||
| ENST00000568219.5:c.2509T>C | ENSP00000454703.2:p.Leu837= | |
| NM_024675.3:c.3394T>C , LRG_308t1:c.3394T>C | NP_078951.2:p.Leu1132= | |
| XM_011545946.1:c.3400T>C | XP_011544248.1:p.Leu1134= | |
| XM_011545947.1:c.*29T>C | XP_011544249.1:n.*29T>C | |
| XM_011545948.1:c.2509T>C | XP_011544250.1:p.Leu837= | |
| XR_950851.1:n.4102T>C | ||
| XM_011545946.2:c.3400T>C | XP_011544248.1:p.Leu1134= | |
| XM_011545947.2:c.*29T>C | XP_011544249.1:n.*29T>C | |
| XM_011545948.2:c.2509T>C | XP_011544250.1:p.Leu837= | |
| XM_017023671.1:c.3163T>C | XP_016879160.1:p.Leu1055= | |
| XM_017023672.2:c.3157T>C | XP_016879161.1:p.Leu1053= | |
| XM_017023673.2:c.*29T>C | XP_016879162.1:n.*29T>C | |
| NM_024675.4:c.3394T>C MANE Select | NP_078951.2:p.Leu1132= |