Linked Data
ClinVar Variation Id:
769003
ClinVar RCV Id:
RCV000947955
dbSNP Id:
rs61738270
ExAC:
19:42301685 A / C
gnomAD v2:
19-42301685-A-C
gnomAD v3:
19-41797753-A-C
gnomAD v4:
19-41797753-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41797753A>C , CM000681.2:g.41797753A>C | GRCh38 |
| NC_000019.9:g.42301685A>C , CM000681.1:g.42301685A>C | GRCh37 |
| NC_000019.8:g.46993525A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357396.8:c.229A>C MANE Select | ENSP00000349971.3:p.Ser77Arg | |
| ENST00000344550.4:c.229A>C | ENSP00000341725.4:p.Ser77Arg | |
| ENST00000357396.7:c.229A>C | ENSP00000349971.3:p.Ser77Arg | |
| ENST00000415495.5:c.229A>C | ENSP00000411641.1:p.Ser77Arg | |
| ENST00000595255.1:n.317A>C | ||
| ENST00000596544.1:c.109A>C | ENSP00000469333.1:p.Ser37Arg | |
| ENST00000599305.1:n.305A>C | ||
| ENST00000630848.2:c.229A>C | ENSP00000485920.1:p.Ser77Arg | |
| NM_001277163.2:c.229A>C | NP_001264092.1:p.Ser77Arg | |
| NM_001815.4:c.229A>C | NP_001806.2:p.Ser77Arg | |
| NR_102333.2:n.317A>C | ||
| NM_001815.5:c.229A>C MANE Select | NP_001806.2:p.Ser77Arg | |
| NM_001277163.3:c.229A>C | NP_001264092.1:p.Ser77Arg | |
| NR_102333.3:n.320A>C |