Linked Data
dbSNP Id:
rs774418013
ExAC:
12:53069168 T / C
gnomAD v2:
12-53069168-T-C
gnomAD v4:
12-52675384-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675384T>C , CM000674.2:g.52675384T>C | GRCh38 |
| NC_000012.11:g.53069168T>C , CM000674.1:g.53069168T>C | GRCh37 |
| NC_000012.10:g.51355435T>C | NCBI36 |
| NG_008364.1:g.10024A>G | |
| NG_008364.2:g.10024A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1744A>G MANE Select | ENSP00000252244.3:p.Ser582Gly | |
| NM_006121.3:c.1744A>G | NP_006112.3:p.Ser582Gly | |
| NM_006121.4:c.1744A>G MANE Select | NP_006112.3:p.Ser582Gly |