Linked Data
ClinVar Variation Id:
1448478
dbSNP Id:
rs142505247
ExAC:
16:16248774 C / T
gnomAD v2:
16-16248774-C-T
gnomAD v3:
16-16154917-C-T
gnomAD v4:
16-16154917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154917C>T , CM000678.2:g.16154917C>T | GRCh38 |
| NC_000016.9:g.16248774C>T , CM000678.1:g.16248774C>T | GRCh37 |
| NC_000016.8:g.16156275C>T | NCBI36 |
| NG_007558.2:g.73555G>A | |
| NG_007558.3:g.73701G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.860G>A | ||
| ENST00000622290.5:c.*169G>A | ENSP00000483331.2:n.*169G>A | |
| ENST00000205557.12:c.3997G>A MANE Select | ENSP00000205557.7:p.Val1333Met | |
| ENST00000640696.1:c.811G>A | ENSP00000492197.1:p.Val271Met | |
| ENST00000205557.11:c.3997G>A | ENSP00000205557.7:p.Val1333Met | |
| ENST00000456970.6:c.3622G>A | ENSP00000405002.2:n.3622G>A | |
| ENST00000576204.5:n.860G>A | ||
| ENST00000622290.4:c.*1206G>A | ENSP00000483331.1:n.*1206G>A | |
| NM_001171.5:c.3997G>A | NP_001162.4:p.Val1333Met | |
| XM_011522479.1:c.3964G>A | XP_011520781.1:p.Val1322Met | |
| XM_011522480.1:c.3655G>A | XP_011520782.1:p.Val1219Met | |
| XM_011522481.1:c.3655G>A | XP_011520783.1:p.Val1219Met | |
| XR_933134.1:n.539-4864C>T | ||
| NM_001351800.1:c.3655G>A | NP_001338729.1:p.Val1219Met | |
| NR_147784.1:n.3659G>A | ||
| XM_011522479.2:c.3964G>A | XP_011520781.1:p.Val1322Met | |
| XM_011522481.3:c.3655G>A | XP_011520783.1:p.Val1219Met | |
| XM_017023212.1:c.3829G>A | XP_016878701.1:p.Val1277Met | |
| XM_024450261.1:c.4033G>A | XP_024306029.1:p.Val1345Met | |
| NM_001171.6:c.3997G>A MANE Select | NP_001162.5:p.Val1333Met |