Linked Data
dbSNP Id:
rs755601354
ExAC:
8:19811858 C / T
gnomAD v2:
8-19811858-C-T
gnomAD v3:
8-19954347-C-T
gnomAD v4:
8-19954347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954347C>T , CM000670.2:g.19954347C>T | GRCh38 |
| NC_000008.10:g.19811858C>T , CM000670.1:g.19811858C>T | GRCh37 |
| NC_000008.9:g.19856138C>T | NCBI36 |
| NG_008855.1:g.20277C>T | |
| NG_008855.2:g.57631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.769C>T MANE Select | ENSP00000497642.1:p.Leu257Phe | |
| ENST00000311322.8:c.769C>T | ENSP00000309757.6:p.Leu257Phe | |
| NM_000237.2:c.769C>T | NP_000228.1:p.Leu257Phe | |
| NM_000237.3:c.769C>T MANE Select | NP_000228.1:p.Leu257Phe |