Linked Data
ClinVar Variation Id:
14832
dbSNP Id:
rs121912556
ExAC:
19:17927754 C / T
gnomAD v2:
19-17927754-C-T
gnomAD v3:
19-17816945-C-T
gnomAD v4:
19-17816945-C-T
PubMed:
PMID:12970298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816945C>T , CM000681.2:g.17816945C>T | GRCh38 |
| NC_000019.9:g.17927754C>T , CM000681.1:g.17927754C>T | GRCh37 |
| NC_000019.8:g.17788754C>T | NCBI36 |
| NG_012092.1:g.9567G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317306.8:c.305G>A MANE Select | ENSP00000321724.6:p.Arg102His | |
| ENST00000317306.7:c.305G>A | ENSP00000321724.6:p.Arg102His | |
| ENST00000379695.5:c.400G>A | ENSP00000369017.4:p.Ala134Thr | |
| ENST00000598577.1:c.326G>A | ||
| NM_001265587.1:c.400G>A | NP_001252516.1:p.Ala134Thr | |
| NM_005543.3:c.305G>A | NP_005534.2:p.Arg102His | |
| NM_001265587.2:c.400G>A | NP_001252516.1:p.Ala134Thr | |
| NM_005543.4:c.305G>A MANE Select | NP_005534.2:p.Arg102His |