Linked Data
ClinVar Variation Id:
3028116
ClinVar RCV Id:
RCV003889486
dbSNP Id:
rs1806106932
gnomAD v4:
8-54627622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627622C>T , CM000670.2:g.54627622C>T | GRCh38 |
| NC_000008.10:g.55540182C>T , CM000670.1:g.55540182C>T | GRCh37 |
| NC_000008.9:g.55702735C>T | NCBI36 |
| NG_009840.1:g.16556C>T | |
| NG_009840.2:g.16556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3740C>T MANE Select | ENSP00000220676.1:p.Pro1247Leu | |
| ENST00000636932.1:c.787+5334C>T | ENSP00000489857.1:n.787+5334C>T | |
| ENST00000637698.1:c.787+5334C>T | ENSP00000490104.1:n.787+5334C>T | |
| ENST00000220676.1:c.3740C>T | ENSP00000220676.1:p.Pro1247Leu | |
| NM_006269.1:c.3740C>T | NP_006260.1:p.Pro1247Leu | |
| XM_017013721.1:c.3761C>T | XP_016869210.1:p.Pro1254Leu | |
| XM_017013722.1:c.3740C>T | XP_016869211.1:p.Pro1247Leu | |
| NM_001375654.1:c.787+5334C>T | NP_001362583.1:n.787+5334C>T | |
| NM_006269.2:c.3740C>T MANE Select | NP_006260.1:p.Pro1247Leu |