Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17200581G>A , CM000678.2:g.17200581G>A | GRCh38 |
| NC_000016.9:g.17294438G>A , CM000678.1:g.17294438G>A | GRCh37 |
| NC_000016.8:g.17201939G>A | NCBI36 |
| NG_015843.1:g.275301C>T | |
| NG_015843.2:g.275301C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022166.4:c.987C>T MANE Select | NP_071449.1:p.Ala329= |
| ENST00000261381.7:c.987C>T MANE Select | ENSP00000261381.6:p.Ala329= |
| NM_022166.3:c.987C>T | NP_071449.1:p.Ala329= |
| ENST00000261381.6:c.987C>T | ENSP00000261381.6:p.Ala329= |
| ENST00000575674.1:n.115C>T | |
| XM_011522574.1:c.987C>T | XP_011520876.1:p.Ala329= |
| XM_017023539.2:c.987C>T | XP_016879028.1:p.Ala329= |
| XM_017023540.2:c.987C>T | XP_016879029.1:p.Ala329= |