Linked Data
dbSNP Id:
rs752580249
ExAC:
12:52881858 T / C
gnomAD v2:
12-52881858-T-C
gnomAD v4:
12-52488074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488074T>C , CM000674.2:g.52488074T>C | GRCh38 |
| NC_000012.11:g.52881858T>C , CM000674.1:g.52881858T>C | GRCh37 |
| NC_000012.10:g.51168125T>C | NCBI36 |
| NG_008298.1:g.10324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1454A>G MANE Select | ENSP00000369317.3:p.Asn485Ser | |
| ENST00000330722.6:c.1454A>G | ENSP00000369317.3:p.Asn485Ser | |
| NM_005554.3:c.1454A>G | NP_005545.1:p.Asn485Ser | |
| NM_005554.4:c.1454A>G MANE Select | NP_005545.1:p.Asn485Ser |