Linked Data
dbSNP Id:
rs776861775
ExAC:
1:204128564 C / A
gnomAD v2:
1-204128564-C-A
gnomAD v4:
1-204159436-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159436C>A , CM000663.2:g.204159436C>A | GRCh38 |
| NC_000001.10:g.204128564C>A , CM000663.1:g.204128564C>A | GRCh37 |
| NC_000001.9:g.202395187C>A | NCBI36 |
| NG_012122.1:g.11902G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.652G>T MANE Select | ENSP00000272190.8:p.Val218Leu | |
| ENST00000638118.1:c.538G>T | ENSP00000490307.1:p.Val180Leu | |
| ENST00000272190.8:c.652G>T | ENSP00000272190.8:p.Val218Leu | |
| NM_000537.3:c.652G>T | NP_000528.1:p.Val218Leu | |
| NM_000537.4:c.652G>T MANE Select | NP_000528.1:p.Val218Leu |