Linked Data
ClinVar Variation Id:
214381
ClinVar RCV Id:
RCV000493913
dbSNP Id:
rs863223972
gnomAD v4:
1-241504143-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504143A>C , CM000663.2:g.241504143A>C | GRCh38 |
| NC_000001.10:g.241667443A>C , CM000663.1:g.241667443A>C | GRCh37 |
| NC_000001.9:g.239734066A>C | NCBI36 |
| NG_012338.1:g.20612T>G , LRG_504:g.20612T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.1510T>G | ||
| ENST00000682162.1:c.1036T>G | ENSP00000508203.1:n.1036T>G | |
| ENST00000682567.1:n.1084T>G | ||
| ENST00000683521.1:c.1007T>G | ENSP00000506864.1:p.Met336Arg | |
| ENST00000684161.1:n.2222T>G | ||
| ENST00000684483.1:c.*403T>G | ENSP00000507894.1:n.*403T>G | |
| ENST00000366560.4:c.1007T>G MANE Select | ENSP00000355518.4:p.Met336Arg | |
| ENST00000366560.3:c.1007T>G | ENSP00000355518.3:p.Met336Arg | |
| NM_000143.3:c.1007T>G , LRG_504t1:c.1007T>G | NP_000134.2:p.Met336Arg | |
| XM_011544132.1:c.779T>G | XP_011542434.1:p.Met260Arg | |
| XM_011544132.2:c.779T>G | XP_011542434.1:p.Met260Arg | |
| NM_000143.4:c.1007T>G MANE Select | NP_000134.2:p.Met336Arg |