Linked Data
ClinVar Variation Id:
2248084
ClinVar RCV Id:
RCV004106753
dbSNP Id:
rs781527514
ExAC:
2:17692195 C / G
gnomAD v2:
2-17692195-C-G
gnomAD v3:
2-17510928-C-G
gnomAD v4:
2-17510928-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17510928C>G , CM000664.2:g.17510928C>G | GRCh38 |
| NC_000002.11:g.17692195C>G , CM000664.1:g.17692195C>G | GRCh37 |
| NC_000002.10:g.17555676C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399080.3:c.3356G>C MANE Select | ENSP00000382030.2:p.Arg1119Thr | |
| ENST00000399080.2:c.3356G>C | ENSP00000382030.2:p.Arg1119Thr | |
| NM_001099218.2:c.3356G>C | NP_001092688.1:p.Arg1119Thr | |
| XM_005262625.1:c.3329G>C | XP_005262682.1:p.Arg1110Thr | |
| XM_011533084.1:c.3275G>C | XP_011531386.1:p.Arg1092Thr | |
| NM_001321233.1:c.3329G>C | NP_001308162.1:p.Arg1110Thr | |
| XM_011533084.2:c.3275G>C | XP_011531386.1:p.Arg1092Thr | |
| XM_024453116.1:c.3329G>C | XP_024308884.1:p.Arg1110Thr | |
| XM_024453117.1:c.3329G>C | XP_024308885.1:p.Arg1110Thr | |
| XM_024453118.1:c.3329G>C | XP_024308886.1:p.Arg1110Thr | |
| NM_001099218.3:c.3356G>C MANE Select | NP_001092688.1:p.Arg1119Thr |