Linked Data
ClinVar Variation Id:
208272
ClinVar RCV Id:
RCV000206917
dbSNP Id:
rs864621987
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649946G>C , CM000681.2:g.12649946G>C | GRCh38 |
| NC_000019.9:g.12760760G>C , CM000681.1:g.12760760G>C | GRCh37 |
| NC_000019.8:g.12621760G>C | NCBI36 |
| NG_008318.1:g.21832C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.2234C>G MANE Select | ENSP00000395473.2:p.Thr745Arg | |
| ENST00000221363.8:c.2231C>G | ENSP00000221363.4:p.Thr744Arg | |
| ENST00000456935.6:c.2234C>G | ENSP00000395473.2:p.Thr745Arg | |
| ENST00000466794.5:n.2824C>G | ||
| NM_000528.3:c.2234C>G | NP_000519.2:p.Thr745Arg | |
| NM_001173498.1:c.2231C>G | NP_001166969.1:p.Thr744Arg | |
| XM_005259913.1:c.2237C>G | XP_005259970.1:p.Thr746Arg | |
| XM_011528017.1:c.1133C>G | XP_011526319.1:p.Thr378Arg | |
| XM_005259913.2:c.2237C>G | XP_005259970.1:p.Thr746Arg | |
| XM_024451518.1:c.1133C>G | XP_024307286.1:p.Thr378Arg | |
| NM_000528.4:c.2234C>G MANE Select | NP_000519.2:p.Thr745Arg | |
| NM_001173498.2:c.2231C>G | NP_001166969.1:p.Thr744Arg |