Linked Data
ClinVar Variation Id:
2418183
ClinVar RCV Id:
RCV003118292
dbSNP Id:
rs1844781705
gnomAD v4:
10-110812444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812444A>G , CM000672.2:g.110812444A>G | GRCh38 |
| NC_000010.10:g.112572202A>G , CM000672.1:g.112572202A>G | GRCh37 |
| NC_000010.9:g.112562192A>G | NCBI36 |
| NG_021177.1:g.173048A>G , LRG_382:g.173048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2047A>G MANE Select | ENSP00000358532.3:p.Arg683Gly | |
| ENST00000369519.3:c.2047A>G | ENSP00000358532.3:p.Arg683Gly | |
| NM_001134363.2:c.2047A>G | NP_001127835.2:p.Arg683Gly | |
| XM_011539697.1:c.1663A>G | XP_011537999.1:p.Arg555Gly | |
| XM_017016103.2:c.1882A>G | XP_016871592.1:p.Arg628Gly | |
| XM_017016104.2:c.1663A>G | XP_016871593.1:p.Arg555Gly | |
| NM_001134363.3:c.2047A>G MANE Select | NP_001127835.2:p.Arg683Gly |