Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873047A>C , CM000664.2:g.240873047A>C | GRCh38 |
| NC_000002.11:g.241812464A>C , CM000664.1:g.241812464A>C | GRCh37 |
| NC_000002.10:g.241461137A>C | NCBI36 |
| NG_008005.1:g.9303A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.593A>C MANE Select | NP_000021.1:p.Gln198Pro |
| ENST00000307503.4:c.593A>C MANE Select | ENSP00000302620.3:p.Gln198Pro |
| NM_000030.2:c.593A>C | NP_000021.1:p.Gln198Pro |
| ENST00000307503.3:c.593A>C | ENSP00000302620.3:p.Gln198Pro |
| ENST00000472436.1:n.613A>C | |
| ENST00000476698.1:n.330A>C |