Linked Data
ClinVar Variation Id:
167573
dbSNP Id:
rs4925828
ExAC:
8:145737636 A / G
gnomAD v2:
8-145737636-A-G
gnomAD v3:
8-144512253-A-G
gnomAD v4:
8-144512253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144512253A>G , CM000670.2:g.144512253A>G | GRCh38 |
| NC_000008.10:g.145737636A>G , CM000670.1:g.145737636A>G | GRCh37 |
| NC_000008.9:g.145708444A>G | NCBI36 |
| NG_016430.2:g.10574T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3127T>C MANE Select | ENSP00000482313.2:p.Leu1043= | |
| ENST00000301323.7:c.144T>C | ||
| ENST00000529424.2:n.49+72T>C | ||
| ENST00000531875.2:c.373T>C | ENSP00000477910.1:p.Leu125= | |
| ENST00000617875.4:c.3127T>C | ENSP00000482313.1:p.Leu1043= | |
| ENST00000621189.4:c.2056T>C | ENSP00000483145.1:p.Leu686= | |
| XM_011517380.1:c.3202T>C | XP_011515682.1:p.Leu1068= | |
| XM_011517381.1:c.3106T>C | XP_011515683.1:p.Leu1036= | |
| XM_011517382.1:c.3010T>C | XP_011515684.1:p.Leu1004= | |
| XM_011517383.1:c.3004T>C | XP_011515685.1:p.Leu1002= | |
| XM_011517384.1:c.2929T>C | XP_011515686.1:p.Leu977= | |
| XM_011517385.1:c.2065T>C | XP_011515687.1:p.Leu689= | |
| XR_928366.1:n.3243T>C | ||
| XR_928367.1:n.3182T>C | ||
| XR_928368.1:n.3075T>C | ||
| XM_011517384.3:c.2929T>C | XP_011515686.1:p.Leu977= | |
| XM_017013991.2:c.3292T>C | XP_016869480.1:p.Leu1098= | |
| XM_017013992.2:c.3217T>C | XP_016869481.1:p.Leu1073= | |
| XM_017013993.2:c.3202T>C | XP_016869482.1:p.Leu1068= | |
| XM_017013994.2:c.3196T>C | XP_016869483.1:p.Leu1066= | |
| XM_017013995.2:c.3127T>C | XP_016869484.1:p.Leu1043= | |
| XM_017013996.2:c.3292T>C | XP_016869485.1:p.Leu1098= | |
| XM_017013997.2:c.3094T>C | XP_016869486.1:p.Leu1032= | |
| XM_017013998.1:c.3217T>C | XP_016869487.1:p.Leu1073= | |
| XM_017013999.2:c.3004T>C | XP_016869488.1:p.Leu1002= | |
| XM_017014000.1:c.2155T>C | XP_016869489.1:p.Leu719= | |
| XM_017014001.2:c.2065T>C | XP_016869490.1:p.Leu689= | |
| XR_001745626.2:n.3329T>C | ||
| XR_001745627.2:n.3268T>C | ||
| XR_001745628.2:n.3159T>C | ||
| XR_001745629.2:n.3022T>C | ||
| XR_001745630.2:n.2824T>C | ||
| NM_004260.4:c.3127T>C MANE Select | NP_004251.4:p.Leu1043= |