Linked Data
ClinVar Variation Id:
287405
ClinVar RCV Id:
RCV000308070
dbSNP Id:
rs754450822
ExAC:
17:10600655 C / G
gnomAD v2:
17-10600655-C-G
gnomAD v3:
17-10697338-C-G
gnomAD v4:
17-10697338-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10697338C>G , CM000679.2:g.10697338C>G | GRCh38 |
| NC_000017.10:g.10600655C>G , CM000679.1:g.10600655C>G | GRCh37 |
| NC_000017.9:g.10541380C>G | NCBI36 |
| NG_008228.2:g.5231G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255390.10:c.170G>C MANE Select | ENSP00000255390.5:p.Arg57Pro | |
| ENST00000577335.2:c.170G>C | ENSP00000464032.1:p.Arg57Pro | |
| ENST00000255390.9:c.170G>C | ENSP00000255390.5:p.Arg57Pro | |
| ENST00000577335.1:c.170G>C | ENSP00000464032.1:p.Arg57Pro | |
| ENST00000577427.1:c.170G>C | ENSP00000463387.1:p.Arg57Pro | |
| ENST00000579396.1:n.190G>C | ||
| ENST00000582053.1:n.436+602G>C | ||
| NM_004589.3:c.170G>C | NP_004580.1:p.Arg57Pro | |
| XM_005256751.2:c.-167G>C | XP_005256808.1:n.-167G>C | |
| XM_005256751.4:c.-167G>C | XP_005256808.1:n.-167G>C | |
| NM_004589.4:c.170G>C MANE Select | NP_004580.1:p.Arg57Pro |