Linked Data
dbSNP Id:
rs772579442
ExAC:
12:52881885 A / C
gnomAD v2:
12-52881885-A-C
gnomAD v4:
12-52488101-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488101A>C , CM000674.2:g.52488101A>C | GRCh38 |
| NC_000012.11:g.52881885A>C , CM000674.1:g.52881885A>C | GRCh37 |
| NC_000012.10:g.51168152A>C | NCBI36 |
| NG_008298.1:g.10297T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1427T>G MANE Select | ENSP00000369317.3:p.Leu476Arg | |
| ENST00000330722.6:c.1427T>G | ENSP00000369317.3:p.Leu476Arg | |
| NM_005554.3:c.1427T>G | NP_005545.1:p.Leu476Arg | |
| NM_005554.4:c.1427T>G MANE Select | NP_005545.1:p.Leu476Arg |