Linked Data
dbSNP Id:
rs772929769
ExAC:
12:52882257 G / A
gnomAD v2:
12-52882257-G-A
gnomAD v3:
12-52488473-G-A
gnomAD v4:
12-52488473-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488473G>A , CM000674.2:g.52488473G>A | GRCh38 |
| NC_000012.11:g.52882257G>A , CM000674.1:g.52882257G>A | GRCh37 |
| NC_000012.10:g.51168524G>A | NCBI36 |
| NG_008298.1:g.9925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1279C>T MANE Select | ENSP00000369317.3:p.Leu427= | |
| ENST00000330722.6:c.1279C>T | ENSP00000369317.3:p.Leu427= | |
| NM_005554.3:c.1279C>T | NP_005545.1:p.Leu427= | |
| NM_005554.4:c.1279C>T MANE Select | NP_005545.1:p.Leu427= |