Linked Data
ClinVar Variation Id:
1784937
ClinVar RCV Id:
RCV002419966
dbSNP Id:
rs1001309965
gnomAD v3:
9-104828988-G-C
gnomAD v4:
9-104828988-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104828988G>C , CM000671.2:g.104828988G>C | GRCh38 |
| NC_000009.11:g.107591269G>C , CM000671.1:g.107591269G>C | GRCh37 |
| NC_000009.10:g.106631090G>C | NCBI36 |
| NG_007981.1:g.104168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.2043C>G MANE Select | ENSP00000363868.3:p.Leu681= | |
| ENST00000678995.1:c.2043C>G | ENSP00000504612.1:p.Leu681= | |
| ENST00000374736.7:c.2043C>G | ENSP00000363868.3:p.Leu681= | |
| ENST00000494467.1:n.216C>G | ||
| NM_005502.3:c.2043C>G | NP_005493.2:p.Leu681= | |
| XM_005251773.1:c.2043C>G | XP_005251830.1:p.Leu681= | |
| XM_005251776.1:c.1863C>G | XP_005251833.1:p.Leu621= | |
| XM_011518339.1:c.2118C>G | XP_011516641.1:p.Leu706= | |
| XM_011518340.1:c.2118C>G | XP_011516642.1:p.Leu706= | |
| XM_011518341.1:c.2118C>G | XP_011516643.1:p.Leu706= | |
| XM_011518342.1:c.1680C>G | XP_011516644.1:p.Leu560= | |
| XM_011518343.1:c.2118C>G | XP_011516645.1:p.Leu706= | |
| XM_011518344.1:c.2118C>G | XP_011516646.1:p.Leu706= | |
| XM_005251773.3:c.2043C>G | XP_005251830.1:p.Leu681= | |
| XM_005251776.3:c.1863C>G | XP_005251833.1:p.Leu621= | |
| XM_011518339.3:c.2118C>G | XP_011516641.1:p.Leu706= | |
| XM_011518340.3:c.2118C>G | XP_011516642.1:p.Leu706= | |
| XM_011518341.3:c.2118C>G | XP_011516643.1:p.Leu706= | |
| XM_011518342.3:c.1680C>G | XP_011516644.1:p.Leu560= | |
| XM_011518344.2:c.2118C>G | XP_011516646.1:p.Leu706= | |
| XM_017014378.2:c.2118C>G | XP_016869867.1:p.Leu706= | |
| XM_017014379.2:c.2118C>G | XP_016869868.1:p.Leu706= | |
| XM_017014380.2:c.2118C>G | XP_016869869.1:p.Leu706= | |
| XM_017014381.2:c.2118C>G | XP_016869870.1:p.Leu706= | |
| XM_017014382.2:c.1980C>G | XP_016869871.1:p.Leu660= | |
| XR_001746223.1:n.2431C>G | ||
| NM_005502.4:c.2043C>G MANE Select | NP_005493.2:p.Leu681= |