Linked Data
ClinVar Variation Id:
406904
dbSNP Id:
rs370125881
ExAC:
8:145741386 G / A
gnomAD v2:
8-145741386-G-A
gnomAD v3:
8-144516002-G-A
gnomAD v4:
8-144516002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144516002G>A , CM000670.2:g.144516002G>A | GRCh38 |
| NC_000008.10:g.145741386G>A , CM000670.1:g.145741386G>A | GRCh37 |
| NC_000008.9:g.145712194G>A | NCBI36 |
| NG_016430.1:g.6825C>T | |
| NG_033083.1:g.3038G>A | |
| NG_016430.2:g.6825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.1117C>T MANE Select | ENSP00000482313.2:p.Leu373Phe | |
| ENST00000524998.1:c.639C>T | ||
| ENST00000532846.2:c.2C>T | ||
| ENST00000617875.4:c.1117C>T | ENSP00000482313.1:p.Leu373Phe | |
| ENST00000621189.4:c.46C>T | ENSP00000483145.1:p.Leu16Phe | |
| NM_004260.3:c.1117C>T | NP_004251.3:p.Leu373Phe | |
| XM_011517380.1:c.1117C>T | XP_011515682.1:p.Leu373Phe | |
| XM_011517381.1:c.1021C>T | XP_011515683.1:p.Leu341Phe | |
| XM_011517382.1:c.1117C>T | XP_011515684.1:p.Leu373Phe | |
| XM_011517383.1:c.1117C>T | XP_011515685.1:p.Leu373Phe | |
| XM_011517384.1:c.1117C>T | XP_011515686.1:p.Leu373Phe | |
| XM_011517385.1:c.-17C>T | XP_011515687.1:n.-17C>T | |
| XR_928366.1:n.1158C>T | ||
| XR_928367.1:n.1158C>T | ||
| XR_928368.1:n.1160C>T | ||
| XM_011517384.3:c.1117C>T | XP_011515686.1:p.Leu373Phe | |
| XM_017013991.2:c.1117C>T | XP_016869480.1:p.Leu373Phe | |
| XM_017013992.2:c.1117C>T | XP_016869481.1:p.Leu373Phe | |
| XM_017013993.2:c.1117C>T | XP_016869482.1:p.Leu373Phe | |
| XM_017013994.2:c.1021C>T | XP_016869483.1:p.Leu341Phe | |
| XM_017013995.2:c.1117C>T | XP_016869484.1:p.Leu373Phe | |
| XM_017013996.2:c.1117C>T | XP_016869485.1:p.Leu373Phe | |
| XM_017013997.2:c.1117C>T | XP_016869486.1:p.Leu373Phe | |
| XM_017013998.1:c.1117C>T | XP_016869487.1:p.Leu373Phe | |
| XM_017013999.2:c.1117C>T | XP_016869488.1:p.Leu373Phe | |
| XM_017014000.1:c.-17C>T | XP_016869489.1:n.-17C>T | |
| XM_017014001.2:c.-17C>T | XP_016869490.1:n.-17C>T | |
| XR_001745626.2:n.1154C>T | ||
| XR_001745627.2:n.1154C>T | ||
| XR_001745628.2:n.1154C>T | ||
| XR_001745629.2:n.1154C>T | ||
| XR_001745630.2:n.1154C>T | ||
| NM_004260.4:c.1117C>T MANE Select | NP_004251.4:p.Leu373Phe |