Linked Data
ClinVar Variation Id:
266062
ClinVar RCV Id:
RCV000492219
dbSNP Id:
rs747481280
gnomAD v2:
10-13174068-T-G
gnomAD v4:
10-13132068-T-G
PubMed:
PMID:28089114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13132068T>G , CM000672.2:g.13132068T>G | GRCh38 |
| NC_000010.10:g.13174068T>G , CM000672.1:g.13174068T>G | GRCh37 |
| NC_000010.9:g.13214074T>G | NCBI36 |
| NG_012876.1:g.36987T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378747.8:c.1403T>G MANE Select | ENSP00000368021.3:p.Met468Arg | |
| ENST00000263036.9:c.1403T>G | ENSP00000263036.3:p.Met468Arg | |
| ENST00000378747.7:c.1403T>G | ENSP00000368021.3:p.Met468Arg | |
| ENST00000378748.7:c.1403T>G | ENSP00000368022.3:p.Met468Arg | |
| ENST00000378752.7:c.1385T>G | ENSP00000368027.3:p.Met462Arg | |
| ENST00000378757.6:c.1403T>G | ENSP00000368032.2:p.Met468Arg | |
| ENST00000378764.6:c.1385T>G | ENSP00000368040.1:p.Met462Arg | |
| ENST00000469025.1:n.259T>G | ||
| NM_001008211.1:c.1403T>G | NP_001008212.1:p.Met468Arg | |
| NM_001008212.1:c.1403T>G | NP_001008213.1:p.Met468Arg | |
| NM_001008213.1:c.1403T>G | NP_001008214.1:p.Met468Arg | |
| NM_021980.4:c.1403T>G | NP_068815.2:p.Met468Arg | |
| XM_005252336.2:c.1385T>G | XP_005252393.2:p.Met462Arg | |
| XM_005252337.3:c.1385T>G | XP_005252394.2:p.Met462Arg | |
| XM_005252338.2:c.1232T>G | XP_005252395.2:p.Met411Arg | |
| NM_001008212.2:c.1403T>G MANE Select | NP_001008213.1:p.Met468Arg |