Linked Data
ClinVar Variation Id:
3116577
ClinVar RCV Id:
RCV004414425
dbSNP Id:
rs779355995
ExAC:
12:52845421 G / A
gnomAD v2:
12-52845421-G-A
gnomAD v3:
12-52451637-G-A
gnomAD v4:
12-52451637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451637G>A , CM000674.2:g.52451637G>A | GRCh38 |
| NC_000012.11:g.52845421G>A , CM000674.1:g.52845421G>A | GRCh37 |
| NC_000012.10:g.51131688G>A | NCBI36 |
| NG_008299.1:g.5490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.442C>T MANE Select | ENSP00000252252.3:p.Leu148Phe | |
| ENST00000252252.3:c.442C>T | ENSP00000252252.3:p.Leu148Phe | |
| NM_005555.3:c.442C>T | NP_005546.2:p.Leu148Phe | |
| NM_005555.4:c.442C>T MANE Select | NP_005546.2:p.Leu148Phe |