ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197489150A>C , CM000664.2:g.197489150A>C | GRCh38 |
| NC_000002.11:g.198353874A>C , CM000664.1:g.198353874A>C | GRCh37 |
| NC_000002.10:g.198062119A>C | NCBI36 |
| NG_008915.1:g.16125T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.1067T>G MANE Select | ENSP00000373620.3:p.Met356Arg | |
| ENST00000418022.2:c.1067T>G | ENSP00000412227.2:p.Met356Arg | |
| ENST00000426480.2:c.1067T>G | ENSP00000414446.2:p.Met356Arg | |
| ENST00000428204.6:c.1067T>G | ENSP00000396460.2:p.Met356Arg | |
| ENST00000439605.2:c.1067T>G | ENSP00000402478.2:p.Met356Arg | |
| ENST00000440114.2:c.*873T>G | ENSP00000390404.1:n.*873T>G | |
| ENST00000452200.6:c.1067T>G | ENSP00000412717.2:p.Met356Arg | |
| ENST00000461097.2:n.3815T>G | ||
| ENST00000476746.6:n.2115T>G | ||
| ENST00000676933.1:c.971T>G | ENSP00000503144.1:p.Met324Arg | |
| ENST00000677403.1:c.*63T>G | ENSP00000504667.1:n.*63T>G | |
| ENST00000677454.1:c.1205T>G | ENSP00000503295.1:n.1205T>G | |
| ENST00000677792.1:c.*76T>G | ENSP00000504645.1:n.*76T>G | |
| ENST00000677913.1:c.1067T>G | ENSP00000503139.1:p.Met356Arg | |
| ENST00000678170.1:c.794T>G | ENSP00000503910.1:p.Met265Arg | |
| ENST00000678545.1:c.*377T>G | ENSP00000502920.1:n.*377T>G | |
| ENST00000678621.1:c.1067T>G | ENSP00000504328.1:p.Met356Arg | |
| ENST00000678761.1:c.1067T>G | ENSP00000503894.1:p.Met356Arg | |
| ENST00000678969.1:n.2657T>G | ||
| ENST00000679291.1:c.*76T>G | ENSP00000504417.1:n.*76T>G | |
| ENST00000345042.6:c.1067T>G | ENSP00000340019.2:p.Met356Arg | |
| ENST00000388968.7:c.1067T>G | ENSP00000373620.3:p.Met356Arg | |
| ENST00000491249.1:n.474T>G | ||
| NM_002156.4:c.1067T>G | NP_002147.2:p.Met356Arg | |
| NM_199440.1:c.1067T>G | NP_955472.1:p.Met356Arg | |
| XM_005246518.2:c.1067T>G | XP_005246575.1:p.Met356Arg | |
| NM_002156.5:c.1067T>G MANE Select | NP_002147.2:p.Met356Arg | |
| NM_199440.2:c.1067T>G | NP_955472.1:p.Met356Arg |