Linked Data
dbSNP Id:
rs368052661
ExAC:
12:52882246 C / T
gnomAD v2:
12-52882246-C-T
gnomAD v4:
12-52488462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488462C>T , CM000674.2:g.52488462C>T | GRCh38 |
| NC_000012.11:g.52882246C>T , CM000674.1:g.52882246C>T | GRCh37 |
| NC_000012.10:g.51168513C>T | NCBI36 |
| NG_008298.1:g.9936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1290G>A MANE Select | ENSP00000369317.3:p.Leu430= | |
| ENST00000330722.6:c.1290G>A | ENSP00000369317.3:p.Leu430= | |
| NM_005554.3:c.1290G>A | NP_005545.1:p.Leu430= | |
| NM_005554.4:c.1290G>A MANE Select | NP_005545.1:p.Leu430= |