Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814372G>A , CM000668.2:g.32814372G>A | GRCh38 |
| NC_000006.11:g.32782149G>A , CM000668.1:g.32782149G>A | GRCh37 |
| NC_000006.10:g.32890127G>A | NCBI36 |
| NG_009793.3:g.29399C>T | |
| NG_012008.1:g.7677C>T | |
| NG_009793.4:g.29399C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002120.4:c.591C>T MANE Select | NP_002111.1:p.Tyr197= |
| ENST00000438763.7:c.591C>T MANE Select | ENSP00000390020.2:p.Tyr197= |
| NM_002120.3:c.591C>T | NP_002111.1:p.Tyr197= |
| ENST00000438763.6:c.591C>T | ENSP00000390020.2:p.Tyr197= |
| ENST00000447394.1:c.541C>T | |
| ENST00000452392.2:c.2412C>T | ENSP00000391806.2:p.Tyr804= |
| ENST00000475235.1:n.628C>T | |
| ENST00000488325.5:c.*362C>T | ENSP00000436618.1:n.*362C>T |
| ENST00000648009.1:c.591C>T | ENSP00000496848.1:p.Tyr197= |