Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54470677G>A , CM000685.2:g.54470677G>A | GRCh38 |
| NC_000023.10:g.54497110G>A , CM000685.1:g.54497110G>A | GRCh37 |
| NC_000023.9:g.54513835G>A | NCBI36 |
| NG_008054.1:g.30490C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.565C>T MANE Select | NP_004454.2:p.Pro189Ser |
| ENST00000375135.4:c.565C>T MANE Select | ENSP00000364277.3:p.Pro189Ser |
| NM_004463.2:c.565C>T | NP_004454.2:p.Pro189Ser |
| ENST00000375135.3:c.565C>T | ENSP00000364277.3:p.Pro189Ser |