Linked Data
ClinVar Variation Id:
1431005
dbSNP Id:
rs778956327
ExAC:
16:16244025 A / G
gnomAD v2:
16-16244025-A-G
gnomAD v3:
16-16150168-A-G
gnomAD v4:
16-16150168-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150168A>G , CM000678.2:g.16150168A>G | GRCh38 |
| NC_000016.9:g.16244025A>G , CM000678.1:g.16244025A>G | GRCh37 |
| NC_000016.8:g.16151526A>G | NCBI36 |
| NG_007558.2:g.78304T>C | |
| NG_007558.3:g.78450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*649T>C | ENSP00000483331.2:n.*649T>C | |
| ENST00000205557.12:c.4477T>C MANE Select | ENSP00000205557.7:p.Phe1493Leu | |
| ENST00000640696.1:c.1291T>C | ENSP00000492197.1:p.Phe431Leu | |
| ENST00000205557.11:c.4477T>C | ENSP00000205557.7:p.Phe1493Leu | |
| ENST00000456970.6:c.4102T>C | ENSP00000405002.2:n.4102T>C | |
| ENST00000576204.5:n.1340T>C | ||
| ENST00000622290.4:c.*1686T>C | ENSP00000483331.1:n.*1686T>C | |
| NM_001171.5:c.4477T>C | NP_001162.4:p.Phe1493Leu | |
| XM_011522479.1:c.4444T>C | XP_011520781.1:p.Phe1482Leu | |
| XM_011522480.1:c.4135T>C | XP_011520782.1:p.Phe1379Leu | |
| XM_011522481.1:c.4135T>C | XP_011520783.1:p.Phe1379Leu | |
| XR_933134.1:n.538+5878A>G | ||
| NM_001351800.1:c.4135T>C | NP_001338729.1:p.Phe1379Leu | |
| NR_147784.1:n.4139T>C | ||
| XM_011522479.2:c.4444T>C | XP_011520781.1:p.Phe1482Leu | |
| XM_011522481.3:c.4135T>C | XP_011520783.1:p.Phe1379Leu | |
| XM_017023212.1:c.4309T>C | XP_016878701.1:p.Phe1437Leu | |
| XM_024450261.1:c.4513T>C | XP_024306029.1:p.Phe1505Leu | |
| NM_001171.6:c.4477T>C MANE Select | NP_001162.5:p.Phe1493Leu |