Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874049A>C , CM000664.2:g.240874049A>C | GRCh38 |
| NC_000002.11:g.241813466A>C , CM000664.1:g.241813466A>C | GRCh37 |
| NC_000002.10:g.241462139A>C | NCBI36 |
| NG_008005.1:g.10305A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.667A>C MANE Select | NP_000021.1:p.Ser223Arg |
| ENST00000307503.4:c.667A>C MANE Select | ENSP00000302620.3:p.Ser223Arg |
| NM_000030.2:c.667A>C | NP_000021.1:p.Ser223Arg |
| ENST00000307503.3:c.667A>C | ENSP00000302620.3:p.Ser223Arg |
| ENST00000476698.1:n.332+1000A>C |