Linked Data
ClinVar Variation Id:
1175888
ClinVar RCV Id:
RCV001531233
dbSNP Id:
rs761565275
ExAC:
16:16263539 G / T
gnomAD v2:
16-16263539-G-T
gnomAD v4:
16-16169682-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169682G>T , CM000678.2:g.16169682G>T | GRCh38 |
| NC_000016.9:g.16263539G>T , CM000678.1:g.16263539G>T | GRCh37 |
| NC_000016.8:g.16171040G>T | NCBI36 |
| NG_007558.2:g.58790C>A | |
| NG_007558.3:g.58936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2959C>A | ENSP00000483331.2:p.Arg987Ser | |
| ENST00000205557.12:c.2959C>A MANE Select | ENSP00000205557.7:p.Arg987Ser | |
| ENST00000205557.11:c.2959C>A | ENSP00000205557.7:p.Arg987Ser | |
| ENST00000456970.6:c.2784C>A | ENSP00000405002.2:n.2784C>A | |
| ENST00000622290.4:c.*168C>A | ENSP00000483331.1:n.*168C>A | |
| NM_001171.5:c.2959C>A | NP_001162.4:p.Arg987Ser | |
| XM_011522479.1:c.2926C>A | XP_011520781.1:p.Arg976Ser | |
| XM_011522480.1:c.2617C>A | XP_011520782.1:p.Arg873Ser | |
| XM_011522481.1:c.2617C>A | XP_011520783.1:p.Arg873Ser | |
| XR_932836.1:n.3194C>A | ||
| XR_932837.1:n.3195C>A | ||
| XR_932838.1:n.3195C>A | ||
| NM_001351800.1:c.2617C>A | NP_001338729.1:p.Arg873Ser | |
| NR_147784.1:n.2821C>A | ||
| XM_011522479.2:c.2926C>A | XP_011520781.1:p.Arg976Ser | |
| XM_011522481.3:c.2617C>A | XP_011520783.1:p.Arg873Ser | |
| XM_017023212.1:c.2791C>A | XP_016878701.1:p.Arg931Ser | |
| XM_017023214.1:c.2959C>A | XP_016878703.1:p.Arg987Ser | |
| XM_024450261.1:c.2995C>A | XP_024306029.1:p.Arg999Ser | |
| XR_932836.2:n.3140C>A | ||
| XR_932837.3:n.3140C>A | ||
| XR_932838.3:n.3140C>A | ||
| NM_001171.6:c.2959C>A MANE Select | NP_001162.5:p.Arg987Ser |