Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044014A>C , CM000663.2:g.55044014A>C | GRCh38 |
| NC_000001.10:g.55509687A>C , CM000663.1:g.55509687A>C | GRCh37 |
| NC_000001.9:g.55282275A>C | NCBI36 |
| NG_009061.1:g.9468A>C , LRG_275:g.9468A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.379A>C MANE Select | NP_777596.2:p.Ser127Arg |
| ENST00000302118.5:c.379A>C MANE Select | ENSP00000303208.5:p.Ser127Arg |
| NM_174936.3:c.379A>C , LRG_275t1:c.379A>C | NP_777596.2:p.Ser127Arg |
| NR_110451.1:n.182+3611A>C | |
| NR_110451.2:n.182+3611A>C | |
| ENST00000673662.1:n.49A>C | |
| ENST00000673726.1:c.379A>C | ENSP00000501004.1:p.Ser127Arg |
| ENST00000673903.1:c.4A>C | ENSP00000501257.1:p.Ser2Arg |
| ENST00000673913.2:c.379A>C | ENSP00000501161.2:p.Ser127Arg |
| ENST00000710286.1:c.736A>C | ENSP00000518176.1:p.Ser246Arg |