Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.8867861T>C , CM000666.2:g.8867861T>C | GRCh38 |
| NC_000004.11:g.8869587T>C , CM000666.1:g.8869587T>C | GRCh37 |
| NG_013062.1:g.8957A>G | |
| NG_013062.2:g.8957A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400677.5:c.879A>G MANE Select | ENSP00000383516.3:p.Ala293= | |
| ENST00000400677.4:c.879A>G | ENSP00000383516.3:p.Ala293= | |
| ENST00000506970.2:c.394+3360A>G | ENSP00000446997.2:n.394+3360A>G | |
| ENST00000617742.1:c.869A>G | ENSP00000479086.1:p.Gln290Arg | |
| NM_001306142.1:c.394+3360A>G | NP_001293071.1:n.394+3360A>G | |
| NM_018942.2:c.879A>G | NP_061815.2:p.Ala293= | |
| NM_018942.3:c.879A>G MANE Select | NP_061815.2:p.Ala293= | |
| NM_001306142.2:c.394+3360A>G | NP_001293071.1:n.394+3360A>G |