Linked Data
ClinVar Variation Id:
742808
ClinVar RCV Id:
RCV000919109
dbSNP Id:
rs753711512
ExAC:
1:53712719 A / G
gnomAD v2:
1-53712719-A-G
gnomAD v3:
1-53247047-A-G
gnomAD v4:
1-53247047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53247047A>G , CM000663.2:g.53247047A>G | GRCh38 |
| NC_000001.10:g.53712719A>G , CM000663.1:g.53712719A>G | GRCh37 |
| NC_000001.9:g.53485307A>G | NCBI36 |
| NG_011517.2:g.86103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.2863T>C MANE Select | ENSP00000303634.6:p.Leu955= | |
| ENST00000347547.7:c.2353T>C | ENSP00000334522.2:p.Leu785= | |
| ENST00000465675.6:c.2497T>C | ENSP00000437009.2:p.Leu833= | |
| ENST00000480045.6:c.*1028T>C | ENSP00000433554.2:n.*1028T>C | |
| ENST00000529670.6:c.401T>C | ||
| ENST00000653217.1:c.2398T>C | ENSP00000499777.1:p.Leu800= | |
| ENST00000653810.1:c.1584T>C | ||
| ENST00000654834.1:n.2323T>C | ||
| ENST00000654947.1:c.365T>C | ENSP00000499442.1:p.Ile122Thr | |
| ENST00000656486.1:c.1993T>C | ENSP00000499708.1:p.Leu665= | |
| ENST00000657047.1:c.707T>C | ||
| ENST00000657895.1:c.2344T>C | ENSP00000499764.1:p.Leu782= | |
| ENST00000658277.1:c.2098T>C | ENSP00000499550.1:p.Leu700= | |
| ENST00000658404.1:n.2191T>C | ||
| ENST00000661457.1:c.*2082T>C | ENSP00000499547.1:n.*2082T>C | |
| ENST00000662198.1:c.2476T>C | ENSP00000499355.1:p.Leu826= | |
| ENST00000662604.1:c.2170T>C | ENSP00000499486.1:p.Leu724= | |
| ENST00000662802.1:c.625T>C | ||
| ENST00000667377.1:c.2677-1066T>C | ENSP00000499405.1:n.2677-1066T>C | |
| ENST00000668071.1:c.2270T>C | ||
| ENST00000668448.1:c.2638T>C | ENSP00000499273.1:p.Leu880= | |
| ENST00000668991.1:n.2576T>C | ||
| ENST00000669432.1:n.9327T>C | ||
| ENST00000306052.10:c.2863T>C | ENSP00000303634.6:p.Leu955= | |
| ENST00000347547.6:c.2353T>C | ENSP00000334522.2:p.Leu785= | |
| ENST00000354412.7:c.2074T>C | ENSP00000346391.3:p.Leu692= | |
| ENST00000371454.6:c.2686T>C | ENSP00000360509.2:p.Leu896= | |
| ENST00000465675.5:c.1345T>C | ENSP00000437009.1:p.Leu449= | |
| ENST00000480045.5:c.*1805T>C | ENSP00000433554.1:n.*1805T>C | |
| ENST00000529670.5:c.336T>C | ||
| ENST00000613948.4:c.2071T>C | ENSP00000480025.1:p.Leu691= | |
| NM_001018054.2:c.2686T>C | NP_001018064.1:p.Leu896= | |
| NM_004631.4:c.2863T>C | NP_004622.2:p.Leu955= | |
| NM_017522.4:c.2074T>C | NP_059992.3:p.Leu692= | |
| NM_033300.3:c.2353T>C | NP_150643.2:p.Leu785= | |
| XM_005271173.2:c.2902T>C | XP_005271230.1:p.Leu968= | |
| XM_005271174.2:c.2515T>C | XP_005271231.1:p.Leu839= | |
| XM_005271175.2:c.2476T>C | XP_005271232.1:p.Leu826= | |
| XM_006710881.2:c.2725T>C | XP_006710944.1:p.Leu909= | |
| XM_006710882.2:c.2677T>C | XP_006710945.1:p.Leu893= | |
| XM_011542094.1:c.2776T>C | XP_011540396.1:p.Leu926= | |
| XM_011542095.1:c.2386T>C | XP_011540397.1:p.Leu796= | |
| XM_011542097.1:c.2989T>C | XP_011540399.1:p.Leu997= | |
| XM_005271173.4:c.2902T>C | XP_005271230.1:p.Leu968= | |
| XM_005271174.3:c.2515T>C | XP_005271231.1:p.Leu839= | |
| XM_005271175.3:c.2476T>C | XP_005271232.1:p.Leu826= | |
| XM_006710881.4:c.2725T>C | XP_006710944.1:p.Leu909= | |
| XM_006710882.4:c.2677T>C | XP_006710945.1:p.Leu893= | |
| XM_011542094.2:c.2776T>C | XP_011540396.1:p.Leu926= | |
| XM_011542095.2:c.2386T>C | XP_011540397.1:p.Leu796= | |
| XM_017002265.1:c.2737T>C | XP_016857754.1:p.Leu913= | |
| XM_017002266.2:c.2500T>C | XP_016857755.1:p.Leu834= | |
| XM_017002267.1:c.1645T>C | XP_016857756.1:p.Leu549= | |
| XM_017002268.1:c.1645T>C | XP_016857757.1:p.Leu549= | |
| NM_001018054.3:c.2686T>C | NP_001018064.1:p.Leu896= | |
| NM_004631.5:c.2863T>C MANE Select | NP_004622.2:p.Leu955= | |
| NM_017522.5:c.2074T>C | NP_059992.3:p.Leu692= | |
| NM_033300.4:c.2353T>C | NP_150643.2:p.Leu785= |