Linked Data
ClinVar Variation Id:
2475362
ClinVar RCV Id:
RCV004264918
dbSNP Id:
rs763550047
ExAC:
12:70195428 C / G
gnomAD v2:
12-70195428-C-G
gnomAD v3:
12-69801648-C-G
gnomAD v4:
12-69801648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69801648C>G , CM000674.2:g.69801648C>G | GRCh38 |
| NC_000012.11:g.70195428C>G , CM000674.1:g.70195428C>G | GRCh37 |
| NC_000012.10:g.68481695C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247833.12:c.1057C>G MANE Select | ENSP00000247833.7:p.Leu353Val | |
| ENST00000247833.11:c.1057C>G | ENSP00000247833.7:p.Leu353Val | |
| ENST00000362025.9:c.1105C>G | ENSP00000355381.5:p.Leu369Val | |
| ENST00000378809.8:c.1100C>G | ENSP00000368086.4:p.Ser367Cys | |
| ENST00000417413.7:c.888+6304C>G | ENSP00000436304.2:n.888+6304C>G | |
| ENST00000483530.6:c.1057C>G | ENSP00000419216.2:p.Leu353Val | |
| ENST00000526994.6:c.252C>G | ||
| ENST00000550536.5:c.1105C>G | ENSP00000447300.1:p.Leu369Val | |
| ENST00000550647.5:c.685+1311C>G | ||
| ENST00000550847.1:c.178C>G | ENSP00000448102.1:p.Leu60Val | |
| ENST00000551641.5:c.439C>G | ENSP00000448773.1:p.Leu147Val | |
| ENST00000552199.5:c.936+6304C>G | ENSP00000448944.1:n.936+6304C>G | |
| ENST00000553099.5:c.439C>G | ENSP00000448027.1:p.Leu147Val | |
| NM_001024647.3:c.439C>G | NP_001019818.1:p.Leu147Val | |
| NM_001278402.1:c.439C>G | NP_001265331.1:p.Leu147Val | |
| NM_022456.4:c.1057C>G | NP_071901.2:p.Leu353Val | |
| NM_175623.3:c.1105C>G | NP_783322.1:p.Leu369Val | |
| NM_175624.3:c.1057C>G | NP_783323.1:p.Leu353Val | |
| NM_175625.3:c.1105C>G | NP_783324.1:p.Leu369Val | |
| NR_103519.1:n.1259+6304C>G | ||
| NR_103520.1:n.1393+6304C>G | ||
| XM_006719226.2:c.1057C>G | XP_006719289.2:p.Leu353Val | |
| XM_006719227.2:c.1057C>G | XP_006719290.2:p.Leu353Val | |
| XM_011537867.1:c.454C>G | XP_011536169.1:p.Leu152Val | |
| XR_944487.1:n.1113+1316C>G | ||
| XR_944488.1:n.1153C>G | ||
| XR_944489.1:n.1153C>G | ||
| XR_944490.1:n.1118+1311C>G | ||
| XR_944491.1:n.1325C>G | ||
| XR_944492.1:n.989+6304C>G | ||
| XM_006719226.3:c.1207C>G | XP_006719289.3:p.Leu403Val | |
| XM_006719227.3:c.1207C>G | XP_006719290.3:p.Leu403Val | |
| XM_017018773.1:c.1057C>G | XP_016874262.1:p.Leu353Val | |
| XM_017018774.2:c.454C>G | XP_016874263.1:p.Leu152Val | |
| XM_017018777.2:c.439C>G | XP_016874266.1:p.Leu147Val | |
| XM_024448832.1:c.454C>G | XP_024304600.1:p.Leu152Val | |
| XR_001748572.2:n.1249C>G | ||
| XR_944487.2:n.1179+1316C>G | ||
| XR_944488.2:n.1219C>G | ||
| XR_944489.2:n.1219C>G | ||
| XR_944490.2:n.1184+1311C>G | ||
| XR_944491.2:n.1391C>G | ||
| XR_944492.2:n.1055+6304C>G | ||
| NM_022456.5:c.1057C>G MANE Select | NP_071901.2:p.Leu353Val | |
| NM_175623.4:c.1105C>G | NP_783322.1:p.Leu369Val | |
| NM_175624.4:c.1057C>G | NP_783323.1:p.Leu353Val | |
| NM_175625.4:c.1105C>G | NP_783324.1:p.Leu369Val | |
| NR_103519.2:n.1085+6304C>G | ||
| NR_103520.2:n.1402+6304C>G |