Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30340295G>A , CM000672.2:g.30340295G>A | GRCh38 |
| NC_000010.10:g.30629224G>A , CM000672.1:g.30629224G>A | GRCh37 |
| NC_000010.9:g.30669230G>A | NCBI36 |
| NG_028096.1:g.14044C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018109.4:c.486C>T MANE Select | NP_060579.3:p.Arg162= |
| ENST00000263063.9:c.486C>T MANE Select | ENSP00000263063.3:p.Arg162= |
| NM_018109.3:c.486C>T | NP_060579.3:p.Arg162= |
| ENST00000263063.8:c.486C>T | ENSP00000263063.3:p.Arg162= |
| ENST00000417581.1:c.291C>T | ENSP00000404392.1:p.Arg97= |
| ENST00000421701.1:c.372C>T | ENSP00000394118.1:p.Arg124= |
| ENST00000488290.5:n.2241C>T |