Linked Data
ClinVar Variation Id:
14829
ClinVar RCV Id:
RCV000015954
dbSNP Id:
rs121912555
ExAC:
19:17927729 G / C
gnomAD v2:
19-17927729-G-C
gnomAD v4:
19-17816920-G-C
PubMed:
PMID:12601553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816920G>C , CM000681.2:g.17816920G>C | GRCh38 |
| NC_000019.9:g.17927729G>C , CM000681.1:g.17927729G>C | GRCh37 |
| NC_000019.8:g.17788729G>C | NCBI36 |
| NG_012092.1:g.9592C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317306.8:c.330C>G MANE Select | ENSP00000321724.6:p.Asn110Lys | |
| ENST00000317306.7:c.330C>G | ENSP00000321724.6:p.Asn110Lys | |
| ENST00000379695.5:c.425C>G | ENSP00000369017.4:p.Thr142Ser | |
| ENST00000598577.1:c.351C>G | ||
| NM_001265587.1:c.425C>G | NP_001252516.1:p.Thr142Ser | |
| NM_005543.3:c.330C>G | NP_005534.2:p.Asn110Lys | |
| NM_001265587.2:c.425C>G | NP_001252516.1:p.Thr142Ser | |
| NM_005543.4:c.330C>G MANE Select | NP_005534.2:p.Asn110Lys |