Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814372G>T , CM000668.2:g.32814372G>T | GRCh38 |
| NC_000006.11:g.32782149G>T , CM000668.1:g.32782149G>T | GRCh37 |
| NC_000006.10:g.32890127G>T | NCBI36 |
| NG_009793.3:g.29399C>A | |
| NG_012008.1:g.7677C>A | |
| NG_009793.4:g.29399C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.591C>A MANE Select | ENSP00000390020.2:p.Tyr197Ter | |
| ENST00000648009.1:c.591C>A | ENSP00000496848.1:p.Tyr197Ter | |
| ENST00000438763.6:c.591C>A | ENSP00000390020.2:p.Tyr197Ter | |
| ENST00000447394.1:c.541C>A | ||
| ENST00000452392.2:c.2412C>A | ENSP00000391806.2:p.Tyr804Ter | |
| ENST00000475235.1:n.628C>A | ||
| ENST00000488325.5:c.*362C>A | ENSP00000436618.1:n.*362C>A | |
| NM_002120.3:c.591C>A | NP_002111.1:p.Tyr197Ter | |
| NM_002120.4:c.591C>A MANE Select | NP_002111.1:p.Tyr197Ter |