Linked Data
ClinVar Variation Id:
759166
ClinVar RCV Id:
RCV000936949
dbSNP Id:
rs892162210
gnomAD v2:
5-145508259-C-G
gnomAD v3:
5-146128696-C-G
gnomAD v4:
5-146128696-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146128696C>G , CM000667.2:g.146128696C>G | GRCh38 |
| NC_000005.9:g.145508259C>G , CM000667.1:g.145508259C>G | GRCh37 |
| NC_000005.8:g.145488452C>G | NCBI36 |
| NG_042294.1:g.59036G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2856G>C MANE Select | ENSP00000377954.2:p.Leu952= | |
| ENST00000504323.6:n.3286G>C | ||
| ENST00000506231.6:n.5738G>C | ||
| ENST00000674158.1:c.2475G>C | ENSP00000501474.1:p.Leu825= | |
| ENST00000674170.1:c.*1294G>C | ENSP00000501381.1:n.*1294G>C | |
| ENST00000674174.1:c.2694G>C | ENSP00000501434.1:p.Leu898= | |
| ENST00000674181.1:c.1103G>C | ||
| ENST00000674191.1:c.2400G>C | ENSP00000501478.1:p.Leu800= | |
| ENST00000674218.1:n.5643G>C | ||
| ENST00000674270.1:c.2718G>C | ENSP00000501365.1:p.Leu906= | |
| ENST00000674277.1:c.2691G>C | ENSP00000501510.1:p.Leu897= | |
| ENST00000674290.1:c.2820G>C | ENSP00000501435.1:p.Leu940= | |
| ENST00000674309.1:c.*212G>C | ENSP00000501400.1:n.*212G>C | |
| ENST00000674310.1:c.2856G>C | ENSP00000501486.1:p.Leu952= | |
| ENST00000674383.1:n.5509G>C | ||
| ENST00000674398.1:c.2853G>C | ENSP00000501476.1:p.Leu951= | |
| ENST00000674447.1:c.2775G>C | ENSP00000501376.1:p.Leu925= | |
| ENST00000674467.1:c.*778G>C | ENSP00000501351.1:n.*778G>C | |
| ENST00000674471.1:n.3124G>C | ||
| ENST00000674479.1:n.3893G>C | ||
| ENST00000274562.13:c.783G>C | ENSP00000274562.10:p.Leu261= | |
| ENST00000394434.6:c.2856G>C | ENSP00000377954.2:p.Leu952= | |
| ENST00000506231.5:n.2837G>C | ||
| ENST00000508709.1:n.390G>C | ||
| ENST00000510191.5:c.2694G>C | ENSP00000426005.1:p.Leu898= | |
| NM_020117.9:c.2856G>C | NP_064502.9:p.Leu952= | |
| XM_011537655.1:c.2718G>C | XP_011535957.1:p.Leu906= | |
| XM_011537656.1:c.2694G>C | XP_011535958.1:p.Leu898= | |
| XM_011537657.1:c.2643G>C | XP_011535959.1:p.Leu881= | |
| NM_001317964.1:c.2718G>C | NP_001304893.1:p.Leu906= | |
| NM_001317965.1:c.2694G>C | NP_001304894.1:p.Leu898= | |
| NM_016460.3:c.2775G>C | NP_057544.2:p.Leu925= | |
| NM_020117.10:c.2856G>C | NP_064502.9:p.Leu952= | |
| XM_011537656.3:c.2694G>C | XP_011535958.1:p.Leu898= | |
| NM_020117.11:c.2856G>C MANE Select | NP_064502.9:p.Leu952= | |
| NM_001317964.2:c.2718G>C | NP_001304893.1:p.Leu906= | |
| NM_001317965.2:c.2694G>C | NP_001304894.1:p.Leu898= | |
| NM_016460.4:c.2775G>C | NP_057544.2:p.Leu925= |