Linked Data
ClinVar Variation Id:
364422
dbSNP Id:
rs144726669
ExAC:
9:107582212 C / G
gnomAD v2:
9-107582212-C-G
gnomAD v3:
9-104819931-C-G
gnomAD v4:
9-104819931-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104819931C>G , CM000671.2:g.104819931C>G | GRCh38 |
| NC_000009.11:g.107582212C>G , CM000671.1:g.107582212C>G | GRCh37 |
| NC_000009.10:g.106622033C>G | NCBI36 |
| NG_007981.1:g.113225G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.3099G>C MANE Select | ENSP00000363868.3:p.Leu1033= | |
| ENST00000678995.1:c.3099G>C | ENSP00000504612.1:p.Leu1033= | |
| ENST00000374736.7:c.3099G>C | ENSP00000363868.3:p.Leu1033= | |
| NM_005502.3:c.3099G>C | NP_005493.2:p.Leu1033= | |
| XM_005251773.1:c.3099G>C | XP_005251830.1:p.Leu1033= | |
| XM_005251776.1:c.2919G>C | XP_005251833.1:p.Leu973= | |
| XM_011518339.1:c.3174G>C | XP_011516641.1:p.Leu1058= | |
| XM_011518340.1:c.3174G>C | XP_011516642.1:p.Leu1058= | |
| XM_011518341.1:c.3174G>C | XP_011516643.1:p.Leu1058= | |
| XM_011518342.1:c.2736G>C | XP_011516644.1:p.Leu912= | |
| XM_011518343.1:c.3174G>C | XP_011516645.1:p.Leu1058= | |
| XM_011518344.1:c.3174G>C | XP_011516646.1:p.Leu1058= | |
| XM_005251773.3:c.3099G>C | XP_005251830.1:p.Leu1033= | |
| XM_005251776.3:c.2919G>C | XP_005251833.1:p.Leu973= | |
| XM_011518339.3:c.3174G>C | XP_011516641.1:p.Leu1058= | |
| XM_011518340.3:c.3174G>C | XP_011516642.1:p.Leu1058= | |
| XM_011518341.3:c.3174G>C | XP_011516643.1:p.Leu1058= | |
| XM_011518342.3:c.2736G>C | XP_011516644.1:p.Leu912= | |
| XM_011518344.2:c.3174G>C | XP_011516646.1:p.Leu1058= | |
| XM_017014378.2:c.3174G>C | XP_016869867.1:p.Leu1058= | |
| XM_017014379.2:c.3174G>C | XP_016869868.1:p.Leu1058= | |
| XM_017014380.2:c.3174G>C | XP_016869869.1:p.Leu1058= | |
| XM_017014381.2:c.3174G>C | XP_016869870.1:p.Leu1058= | |
| XM_017014382.2:c.3036G>C | XP_016869871.1:p.Leu1012= | |
| XR_001746223.1:n.3487G>C | ||
| NM_005502.4:c.3099G>C MANE Select | NP_005493.2:p.Leu1033= |