Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648016G>C , CM000673.2:g.69648016G>C | GRCh38 |
| NC_000011.9:g.69462784G>C , CM000673.1:g.69462784G>C | GRCh37 |
| NC_000011.8:g.69171965G>C | NCBI36 |
| NG_007375.1:g.11912G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.597G>C MANE Select | ENSP00000227507.2:p.Pro199= | |
| ENST00000227507.2:c.597G>C | ENSP00000227507.2:p.Pro199= | |
| ENST00000536559.1:c.*17G>C | ENSP00000438482.1:n.*17G>C | |
| ENST00000542367.1:n.60G>C | ||
| ENST00000545484.1:n.303G>C | ||
| NM_053056.2:c.597G>C | NP_444284.1:p.Pro199= | |
| XM_006718653.2:c.621G>C | XP_006718716.1:p.Pro207= | |
| NM_053056.3:c.597G>C MANE Select | NP_444284.1:p.Pro199= |