Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648098T>C , CM000673.2:g.69648098T>C | GRCh38 |
| NC_000011.9:g.69462866T>C , CM000673.1:g.69462866T>C | GRCh37 |
| NC_000011.8:g.69172047T>C | NCBI36 |
| NG_007375.1:g.11994T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.679T>C MANE Select | ENSP00000227507.2:p.Tyr227His | |
| ENST00000227507.2:c.679T>C | ENSP00000227507.2:p.Tyr227His | |
| ENST00000536559.1:c.*99T>C | ENSP00000438482.1:n.*99T>C | |
| ENST00000542367.1:n.142T>C | ||
| ENST00000545484.1:n.385T>C | ||
| NM_053056.2:c.679T>C | NP_444284.1:p.Tyr227His | |
| XM_006718653.2:c.703T>C | XP_006718716.1:p.Tyr235His | |
| NM_053056.3:c.679T>C MANE Select | NP_444284.1:p.Tyr227His |