Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52539893G>T , CM000670.2:g.52539893G>T | GRCh38 |
| NC_000008.10:g.53452453G>T , CM000670.1:g.53452453G>T | GRCh37 |
| NC_000008.9:g.53615006G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207413.4:c.263C>A MANE Select | NP_997296.1:p.Pro88Gln |
| ENST00000358543.9:c.263C>A MANE Select | ENSP00000351345.4:p.Pro88Gln |
| NM_207413.3:c.263C>A | NP_997296.1:p.Pro88Gln |
| ENST00000358543.8:c.263C>A | ENSP00000351345.4:p.Pro88Gln |
| ENST00000523939.1:c.263C>A | ENSP00000430953.1:p.Pro88Gln |