Linked Data
ClinVar Variation Id:
2145022
ClinVar RCV Id:
RCV003064814
dbSNP Id:
rs374113337
ExAC:
16:16263538 C / T
gnomAD v2:
16-16263538-C-T
gnomAD v3:
16-16169681-C-T
gnomAD v4:
16-16169681-C-T
COSMIC:
COSM4058646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169681C>T , CM000678.2:g.16169681C>T | GRCh38 |
| NC_000016.9:g.16263538C>T , CM000678.1:g.16263538C>T | GRCh37 |
| NC_000016.8:g.16171039C>T | NCBI36 |
| NG_007558.2:g.58791G>A | |
| NG_007558.3:g.58937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2960G>A | ENSP00000483331.2:p.Arg987His | |
| ENST00000205557.12:c.2960G>A MANE Select | ENSP00000205557.7:p.Arg987His | |
| ENST00000205557.11:c.2960G>A | ENSP00000205557.7:p.Arg987His | |
| ENST00000456970.6:c.2785G>A | ENSP00000405002.2:n.2785G>A | |
| ENST00000622290.4:c.*169G>A | ENSP00000483331.1:n.*169G>A | |
| NM_001171.5:c.2960G>A | NP_001162.4:p.Arg987His | |
| XM_011522479.1:c.2927G>A | XP_011520781.1:p.Arg976His | |
| XM_011522480.1:c.2618G>A | XP_011520782.1:p.Arg873His | |
| XM_011522481.1:c.2618G>A | XP_011520783.1:p.Arg873His | |
| XR_932836.1:n.3195G>A | ||
| XR_932837.1:n.3196G>A | ||
| XR_932838.1:n.3196G>A | ||
| NM_001351800.1:c.2618G>A | NP_001338729.1:p.Arg873His | |
| NR_147784.1:n.2822G>A | ||
| XM_011522479.2:c.2927G>A | XP_011520781.1:p.Arg976His | |
| XM_011522481.3:c.2618G>A | XP_011520783.1:p.Arg873His | |
| XM_017023212.1:c.2792G>A | XP_016878701.1:p.Arg931His | |
| XM_017023214.1:c.2960G>A | XP_016878703.1:p.Arg987His | |
| XM_024450261.1:c.2996G>A | XP_024306029.1:p.Arg999His | |
| XR_932836.2:n.3141G>A | ||
| XR_932837.3:n.3141G>A | ||
| XR_932838.3:n.3141G>A | ||
| NM_001171.6:c.2960G>A MANE Select | NP_001162.5:p.Arg987His |