Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656459C>G , CM000682.2:g.10656459C>G | GRCh38 |
| NC_000020.10:g.10637107C>G , CM000682.1:g.10637107C>G | GRCh37 |
| NC_000020.9:g.10585107C>G | NCBI36 |
| NG_007496.1:g.22588G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.695-1G>C MANE Select | NP_000205.1:n.695-1G>C |
| ENST00000254958.10:c.695-1G>C MANE Select | ENSP00000254958.4:n.695-1G>C |
| NM_000214.2:c.695-1G>C | NP_000205.1:n.695-1G>C |
| ENST00000254958.9:c.695-1G>C | ENSP00000254958.4:n.695-1G>C |
| ENST00000423891.6:n.561-1G>C |