Linked Data
ClinVar Variation Id:
239770
dbSNP Id:
rs201384843
ExAC:
8:145736832 G / A
gnomAD v2:
8-145736832-G-A
gnomAD v3:
8-144511449-G-A
gnomAD v4:
8-144511449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511449G>A , CM000670.2:g.144511449G>A | GRCh38 |
| NC_000008.10:g.145736832G>A , CM000670.1:g.145736832G>A | GRCh37 |
| NC_000008.9:g.145707640G>A | NCBI36 |
| NG_016430.1:g.11378C>T | |
| NG_016430.2:g.11378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3609C>T MANE Select | ENSP00000482313.2:p.Leu1203= | |
| ENST00000301323.7:c.626C>T | ||
| ENST00000529424.2:n.265C>T | ||
| ENST00000531875.2:c.864C>T | ENSP00000477910.1:p.Leu288= | |
| ENST00000617875.4:c.3609C>T | ENSP00000482313.1:p.Leu1203= | |
| ENST00000621189.4:c.2538C>T | ENSP00000483145.1:p.Leu846= | |
| NM_004260.3:c.3609C>T | NP_004251.3:p.Leu1203= | |
| XM_011517380.1:c.3684C>T | XP_011515682.1:p.Leu1228= | |
| XM_011517381.1:c.3588C>T | XP_011515683.1:p.Leu1196= | |
| XM_011517382.1:c.3492C>T | XP_011515684.1:p.Leu1164= | |
| XM_011517383.1:c.3486C>T | XP_011515685.1:p.Leu1162= | |
| XM_011517384.1:c.3411C>T | XP_011515686.1:p.Leu1137= | |
| XM_011517385.1:c.2547C>T | XP_011515687.1:p.Leu849= | |
| XR_928366.1:n.3568C>T | ||
| XR_928367.1:n.3664C>T | ||
| XR_928368.1:n.3557C>T | ||
| XM_011517384.3:c.3411C>T | XP_011515686.1:p.Leu1137= | |
| XM_017013991.2:c.3895C>T | XP_016869480.1:p.Pro1299Ser | |
| XM_017013992.2:c.3820C>T | XP_016869481.1:p.Pro1274Ser | |
| XM_017013993.2:c.3805C>T | XP_016869482.1:p.Pro1269Ser | |
| XM_017013994.2:c.3799C>T | XP_016869483.1:p.Pro1267Ser | |
| XM_017013995.2:c.3730C>T | XP_016869484.1:p.Pro1244Ser | |
| XM_017013996.2:c.3774C>T | XP_016869485.1:p.Leu1258= | |
| XM_017013997.2:c.3697C>T | XP_016869486.1:p.Pro1233Ser | |
| XM_017013998.1:c.3699C>T | XP_016869487.1:p.Leu1233= | |
| XM_017013999.2:c.3607C>T | XP_016869488.1:p.Pro1203Ser | |
| XM_017014000.1:c.2758C>T | XP_016869489.1:p.Pro920Ser | |
| XM_017014001.2:c.2668C>T | XP_016869490.1:p.Pro890Ser | |
| XR_001745626.2:n.3654C>T | ||
| XR_001745627.2:n.3750C>T | ||
| XR_001745628.2:n.3641C>T | ||
| XR_001745629.2:n.3504C>T | ||
| XR_001745630.2:n.3306C>T | ||
| NM_004260.4:c.3609C>T MANE Select | NP_004251.4:p.Leu1203= |