Linked Data
ClinVar Variation Id:
2005427
ClinVar RCV Id:
RCV002828530
dbSNP Id:
rs767974629
ExAC:
8:55540777 T / C
gnomAD v2:
8-55540777-T-C
gnomAD v3:
8-54628217-T-C
gnomAD v4:
8-54628217-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628217T>C , CM000670.2:g.54628217T>C | GRCh38 |
| NC_000008.10:g.55540777T>C , CM000670.1:g.55540777T>C | GRCh37 |
| NC_000008.9:g.55703330T>C | NCBI36 |
| NG_009840.1:g.17151T>C | |
| NG_009840.2:g.17151T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4335T>C MANE Select | ENSP00000220676.1:p.Ser1445= | |
| ENST00000636932.1:c.787+5929T>C | ENSP00000489857.1:n.787+5929T>C | |
| ENST00000637698.1:c.787+5929T>C | ENSP00000490104.1:n.787+5929T>C | |
| ENST00000220676.1:c.4335T>C | ENSP00000220676.1:p.Ser1445= | |
| NM_006269.1:c.4335T>C | NP_006260.1:p.Ser1445= | |
| XM_017013721.1:c.4356T>C | XP_016869210.1:p.Ser1452= | |
| XM_017013722.1:c.4335T>C | XP_016869211.1:p.Ser1445= | |
| NM_001375654.1:c.787+5929T>C | NP_001362583.1:n.787+5929T>C | |
| NM_006269.2:c.4335T>C MANE Select | NP_006260.1:p.Ser1445= |