Linked Data
dbSNP Id:
rs61730612
gnomAD v2:
12-52882292-C-A
gnomAD v3:
12-52488508-C-A
gnomAD v4:
12-52488508-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488508C>A , CM000674.2:g.52488508C>A | GRCh38 |
| NC_000012.11:g.52882292C>A , CM000674.1:g.52882292C>A | GRCh37 |
| NC_000012.10:g.51168559C>A | NCBI36 |
| NG_008298.1:g.9890G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1244G>T MANE Select | ENSP00000369317.3:p.Arg415Leu | |
| ENST00000330722.6:c.1244G>T | ENSP00000369317.3:p.Arg415Leu | |
| NM_005554.3:c.1244G>T | NP_005545.1:p.Arg415Leu | |
| NM_005554.4:c.1244G>T MANE Select | NP_005545.1:p.Arg415Leu |