Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117134375C>G , CM000672.2:g.117134375C>G | GRCh38 |
| NC_000010.10:g.118893886C>G , CM000672.1:g.118893886C>G | GRCh37 |
| NC_000010.9:g.118883876C>G | NCBI36 |
| NG_012317.1:g.8927G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.638G>C MANE Select | NP_001106175.1:p.Ser213Thr |
| ENST00000369206.6:c.638G>C MANE Select | ENSP00000358207.4:p.Ser213Thr |
| NM_001112704.1:c.638G>C | NP_001106175.1:p.Ser213Thr |
| NM_199131.2:c.430-1898G>C | NP_954582.1:n.430-1898G>C |
| NM_199131.3:c.430-1898G>C | NP_954582.1:n.430-1898G>C |
| ENST00000277905.6:c.430-1898G>C | ENSP00000277905.2:n.430-1898G>C |
| ENST00000369206.5:c.638G>C | ENSP00000358207.4:p.Ser213Thr |