Linked Data
ClinVar Variation Id:
501951
ClinVar RCV Id:
RCV000598426
dbSNP Id:
rs185591162
ExAC:
2:219647153 A / C
gnomAD v2:
2-219647153-A-C
gnomAD v3:
2-218782430-A-C
gnomAD v4:
2-218782430-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782430A>C , CM000664.2:g.218782430A>C | GRCh38 |
| NC_000002.11:g.219647153A>C , CM000664.1:g.219647153A>C | GRCh37 |
| NC_000002.10:g.219355397A>C | NCBI36 |
| NG_007959.1:g.5682A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.248A>C MANE Select | ENSP00000258415.4:p.Gln83Pro | |
| ENST00000258415.8:c.248A>C | ENSP00000258415.4:p.Gln83Pro | |
| ENST00000445971.1:c.248A>C | ENSP00000404945.1:p.Gln83Pro | |
| ENST00000466602.1:n.257A>C | ||
| ENST00000494263.5:n.682A>C | ||
| NM_000784.3:c.248A>C | NP_000775.1:p.Gln83Pro | |
| XM_017003488.2:c.19A>C | XP_016858977.1:p.Ser7Arg | |
| NM_000784.4:c.248A>C MANE Select | NP_000775.1:p.Gln83Pro |