Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814361A>G , CM000668.2:g.32814361A>G | GRCh38 |
| NC_000006.11:g.32782138A>G , CM000668.1:g.32782138A>G | GRCh37 |
| NC_000006.10:g.32890116A>G | NCBI36 |
| NG_009793.3:g.29410T>C | |
| NG_012008.1:g.7688T>C | |
| NG_009793.4:g.29410T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.602T>C MANE Select | ENSP00000390020.2:p.Val201Ala | |
| ENST00000648009.1:c.602T>C | ENSP00000496848.1:p.Val201Ala | |
| ENST00000438763.6:c.602T>C | ENSP00000390020.2:p.Val201Ala | |
| ENST00000452392.2:c.2423T>C | ENSP00000391806.2:p.Val808Ala | |
| ENST00000475235.1:n.639T>C | ||
| ENST00000488325.5:c.*373T>C | ENSP00000436618.1:n.*373T>C | |
| NM_002120.3:c.602T>C | NP_002111.1:p.Val201Ala | |
| NM_002120.4:c.602T>C MANE Select | NP_002111.1:p.Val201Ala |