Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52222681C>T , CM000665.2:g.52222681C>T | GRCh38 |
| NC_000003.11:g.52256697C>T , CM000665.1:g.52256697C>T | GRCh37 |
| NC_000003.10:g.52231737C>T | NCBI36 |
| NG_033933.1:g.8483G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017442.4:c.1635G>A MANE Select | NP_059138.1:p.Pro545= |
| ENST00000360658.3:c.1635G>A MANE Select | ENSP00000353874.2:p.Pro545= |
| NM_017442.3:c.1635G>A | NP_059138.1:p.Pro545= |
| ENST00000360658.2:c.1635G>A | ENSP00000353874.2:p.Pro545= |
| ENST00000494383.1:c.2095G>A |