Linked Data
ClinVar Variation Id:
319447
dbSNP Id:
rs145190613
ExAC:
16:50745425 C / T
gnomAD v2:
16-50745425-C-T
gnomAD v3:
16-50711514-C-T
gnomAD v4:
16-50711514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50711514C>T , CM000678.2:g.50711514C>T | GRCh38 |
| NC_000016.9:g.50745425C>T , CM000678.1:g.50745425C>T | GRCh37 |
| NC_000016.8:g.49302926C>T | NCBI36 |
| NG_007508.1:g.19376C>T , LRG_177:g.19376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.1522C>T | ENSP00000493088.1:p.Leu508= | |
| ENST00000646677.2:c.1522C>T | ENSP00000496533.1:p.Leu508= | |
| ENST00000641284.1:c.1522C>T | ENSP00000493088.1:p.Leu508= | |
| ENST00000646677.1:c.1522C>T | ENSP00000496533.1:p.Leu508= | |
| ENST00000647318.2:c.1522C>T MANE Select | ENSP00000495993.1:p.Leu508= | |
| ENST00000300589.6:c.1603C>T | ENSP00000300589.2:p.Leu535= | |
| NM_001293557.1:c.1522C>T | NP_001280486.1:p.Leu508= | |
| NM_022162.2:c.1603C>T | NP_071445.1:p.Leu535= | |
| XM_005256084.2:c.1522C>T | XP_005256141.1:p.Leu508= | |
| XM_006721242.2:c.1522C>T | XP_006721305.1:p.Leu508= | |
| XM_006721243.2:c.1522C>T | XP_006721306.1:p.Leu508= | |
| XM_011523257.1:c.1099C>T | XP_011521559.1:p.Leu367= | |
| XM_011523258.1:c.1099C>T | XP_011521560.1:p.Leu367= | |
| XM_011523259.1:c.937C>T | XP_011521561.1:p.Leu313= | |
| XM_011523260.1:c.1522C>T | XP_011521562.1:p.Leu508= | |
| XM_011523261.1:c.1522C>T | XP_011521563.1:p.Leu508= | |
| XR_429725.2:n.1612C>T | ||
| XR_429726.2:n.1612C>T | ||
| XR_933387.1:n.1612C>T | ||
| XM_005256084.4:c.1522C>T | XP_005256141.1:p.Leu508= | |
| XM_006721242.4:c.1522C>T | XP_006721305.1:p.Leu508= | |
| XM_006721243.4:c.1522C>T | XP_006721306.1:p.Leu508= | |
| XM_011523259.2:c.937C>T | XP_011521561.1:p.Leu313= | |
| XM_011523260.3:c.1522C>T | XP_011521562.1:p.Leu508= | |
| XM_011523261.2:c.1522C>T | XP_011521563.1:p.Leu508= | |
| XM_017023535.1:c.1030C>T | XP_016879024.1:p.Leu344= | |
| XM_017023536.1:c.937C>T | XP_016879025.1:p.Leu313= | |
| XM_017023537.1:c.937C>T | XP_016879026.1:p.Leu313= | |
| XM_017023538.1:c.937C>T | XP_016879027.1:p.Leu313= | |
| XR_429725.3:n.1565C>T | ||
| XR_429726.3:n.1565C>T | ||
| XR_933387.2:n.1565C>T | ||
| NM_001293557.2:c.1522C>T | NP_001280486.1:p.Leu508= | |
| NM_001370466.1:c.1522C>T MANE Select | NP_001357395.1:p.Leu508= | |
| NM_022162.3:c.1603C>T | NP_071445.1:p.Leu535= | |
| NR_163434.1:n.1587C>T |