Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814359C>A , CM000668.2:g.32814359C>A | GRCh38 |
| NC_000006.11:g.32782136C>A , CM000668.1:g.32782136C>A | GRCh37 |
| NC_000006.10:g.32890114C>A | NCBI36 |
| NG_009793.3:g.29412G>T | |
| NG_012008.1:g.7690G>T | |
| NG_009793.4:g.29412G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002120.4:c.604G>T MANE Select | NP_002111.1:p.Asp202Tyr |
| ENST00000438763.7:c.604G>T MANE Select | ENSP00000390020.2:p.Asp202Tyr |
| NM_002120.3:c.604G>T | NP_002111.1:p.Asp202Tyr |
| ENST00000438763.6:c.604G>T | ENSP00000390020.2:p.Asp202Tyr |
| ENST00000452392.2:c.2425G>T | ENSP00000391806.2:p.Asp809Tyr |
| ENST00000475235.1:n.641G>T | |
| ENST00000488325.5:c.*375G>T | ENSP00000436618.1:n.*375G>T |
| ENST00000648009.1:c.604G>T | ENSP00000496848.1:p.Asp202Tyr |