Linked Data
ClinVar Variation Id:
500843
dbSNP Id:
rs151251262
ExAC:
11:17523044 G / A
gnomAD v2:
11-17523044-G-A
gnomAD v3:
11-17501497-G-A
gnomAD v4:
11-17501497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501497G>A , CM000673.2:g.17501497G>A | GRCh38 |
| NC_000011.9:g.17523044G>A , CM000673.1:g.17523044G>A | GRCh37 |
| NC_000011.8:g.17479620G>A | NCBI36 |
| NG_011883.1:g.47920C>T | |
| NG_011883.2:g.47920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2265C>T MANE Select | ENSP00000005226.7:p.Leu755= | |
| ENST00000318024.9:c.1365C>T MANE Plus Clinical | ENSP00000317018.4:p.Leu455= | |
| ENST00000005226.11:c.2265C>T | ENSP00000005226.7:p.Leu755= | |
| ENST00000318024.8:c.1365C>T | ENSP00000317018.4:p.Leu455= | |
| ENST00000526313.5:c.*79C>T | ENSP00000432236.1:n.*79C>T | |
| ENST00000527020.5:c.1308C>T | ENSP00000436934.1:p.Leu436= | |
| ENST00000527720.5:c.1272C>T | ENSP00000432944.1:p.Leu424= | |
| ENST00000529563.5:n.249C>T | ||
| ENST00000534556.1:n.150C>T | ||
| NM_001297764.1:c.1308C>T | NP_001284693.1:p.Leu436= | |
| NM_005709.3:c.1365C>T | NP_005700.2:p.Leu455= | |
| NM_153676.3:c.2265C>T | NP_710142.1:p.Leu755= | |
| NR_123738.1:n.1400C>T | ||
| XM_011519831.1:c.2289C>T | XP_011518133.1:p.Leu763= | |
| XM_011519832.1:c.1518C>T | XP_011518134.1:p.Leu506= | |
| XM_011519833.1:c.1415C>T | XP_011518135.1:p.Ser472Phe | |
| XR_930841.1:n.1736C>T | ||
| XR_930842.1:n.1677C>T | ||
| XM_011519832.3:c.1518C>T | XP_011518134.1:p.Leu506= | |
| XM_017017075.1:c.2265C>T | XP_016872564.1:p.Leu755= | |
| XR_001747717.2:n.1524C>T | ||
| NM_153676.4:c.2265C>T MANE Select | NP_710142.1:p.Leu755= | |
| NM_001297764.2:c.1308C>T | NP_001284693.1:p.Leu436= | |
| NM_005709.4:c.1365C>T MANE Plus Clinical | NP_005700.2:p.Leu455= | |
| NR_123738.2:n.1400C>T |