Linked Data
dbSNP Id:
rs1256947992
gnomAD v2:
12-52882278-G-A
gnomAD v3:
12-52488494-G-A
gnomAD v4:
12-52488494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488494G>A , CM000674.2:g.52488494G>A | GRCh38 |
| NC_000012.11:g.52882278G>A , CM000674.1:g.52882278G>A | GRCh37 |
| NC_000012.10:g.51168545G>A | NCBI36 |
| NG_008298.1:g.9904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1258C>T MANE Select | ENSP00000369317.3:p.Leu420Phe | |
| ENST00000330722.6:c.1258C>T | ENSP00000369317.3:p.Leu420Phe | |
| NM_005554.3:c.1258C>T | NP_005545.1:p.Leu420Phe | |
| NM_005554.4:c.1258C>T MANE Select | NP_005545.1:p.Leu420Phe |