Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648019C>G , CM000673.2:g.69648019C>G | GRCh38 |
| NC_000011.9:g.69462787C>G , CM000673.1:g.69462787C>G | GRCh37 |
| NC_000011.8:g.69171968C>G | NCBI36 |
| NG_007375.1:g.11915C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.600C>G MANE Select | ENSP00000227507.2:p.Pro200= | |
| ENST00000227507.2:c.600C>G | ENSP00000227507.2:p.Pro200= | |
| ENST00000536559.1:c.*20C>G | ENSP00000438482.1:n.*20C>G | |
| ENST00000542367.1:n.63C>G | ||
| ENST00000545484.1:n.306C>G | ||
| NM_053056.2:c.600C>G | NP_444284.1:p.Pro200= | |
| XM_006718653.2:c.624C>G | XP_006718716.1:p.Pro208= | |
| NM_053056.3:c.600C>G MANE Select | NP_444284.1:p.Pro200= |