Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136656391A>C , CM000685.2:g.136656391A>C | GRCh38 |
| NC_000023.10:g.135738550A>C , CM000685.1:g.135738550A>C | GRCh37 |
| NC_000023.9:g.135566216A>C | NCBI36 |
| NG_007280.1:g.13215A>C , LRG_141:g.13215A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.382A>C MANE Select | NP_000065.1:p.Ser128Arg |
| ENST00000370629.7:c.382A>C MANE Select | ENSP00000359663.2:p.Ser128Arg |
| NM_000074.2:c.382A>C , LRG_141t1:c.382A>C | NP_000065.1:p.Ser128Arg |
| ENST00000370628.2:c.346+1961A>C | ENSP00000359662.2:n.346+1961A>C |
| ENST00000370629.6:c.382A>C | ENSP00000359663.2:p.Ser128Arg |
| ENST00000695724.1:c.324A>C | ENSP00000512122.1:p.Ter108Tyr |
| ENST00000695725.1:c.157-2648A>C | ENSP00000512123.1:n.157-2648A>C |
| ENST00000695726.1:n.2350A>C | |
| ENST00000695729.1:n.3185A>C |