Linked Data
dbSNP Id:
rs768118281
ExAC:
12:52882174 G / C
gnomAD v2:
12-52882174-G-C
gnomAD v4:
12-52488390-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488390G>C , CM000674.2:g.52488390G>C | GRCh38 |
| NC_000012.11:g.52882174G>C , CM000674.1:g.52882174G>C | GRCh37 |
| NC_000012.10:g.51168441G>C | NCBI36 |
| NG_008298.1:g.10008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1362C>G MANE Select | ENSP00000369317.3:p.Val454= | |
| ENST00000330722.6:c.1362C>G | ENSP00000369317.3:p.Val454= | |
| NM_005554.3:c.1362C>G | NP_005545.1:p.Val454= | |
| NM_005554.4:c.1362C>G MANE Select | NP_005545.1:p.Val454= |