Linked Data
ClinVar Variation Id:
2452773
ClinVar RCV Id:
RCV003177547
dbSNP Id:
rs755449276
ExAC:
1:241667497 T / C
gnomAD v2:
1-241667497-T-C
gnomAD v4:
1-241504197-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504197T>C , CM000663.2:g.241504197T>C | GRCh38 |
| NC_000001.10:g.241667497T>C , CM000663.1:g.241667497T>C | GRCh37 |
| NC_000001.9:g.239734120T>C | NCBI36 |
| NG_012338.1:g.20558A>G , LRG_504:g.20558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1456A>G | ||
| ENST00000682162.1:c.982A>G | ENSP00000508203.1:n.982A>G | |
| ENST00000682567.1:n.1030A>G | ||
| ENST00000683521.1:c.953A>G | ENSP00000506864.1:p.His318Arg | |
| ENST00000684161.1:n.2168A>G | ||
| ENST00000684483.1:c.*349A>G | ENSP00000507894.1:n.*349A>G | |
| ENST00000366560.4:c.953A>G MANE Select | ENSP00000355518.4:p.His318Arg | |
| ENST00000366560.3:c.953A>G | ENSP00000355518.3:p.His318Arg | |
| NM_000143.3:c.953A>G , LRG_504t1:c.953A>G | NP_000134.2:p.His318Arg | |
| XM_011544132.1:c.725A>G | XP_011542434.1:p.His242Arg | |
| XM_011544132.2:c.725A>G | XP_011542434.1:p.His242Arg | |
| NM_000143.4:c.953A>G MANE Select | NP_000134.2:p.His318Arg |