Linked Data
dbSNP Id:
rs757382249
ExAC:
12:52845380 G / T
gnomAD v2:
12-52845380-G-T
gnomAD v4:
12-52451596-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451596G>T , CM000674.2:g.52451596G>T | GRCh38 |
| NC_000012.11:g.52845380G>T , CM000674.1:g.52845380G>T | GRCh37 |
| NC_000012.10:g.51131647G>T | NCBI36 |
| NG_008299.1:g.5531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.483C>A MANE Select | ENSP00000252252.3:p.Ala161= | |
| ENST00000252252.3:c.483C>A | ENSP00000252252.3:p.Ala161= | |
| NM_005555.3:c.483C>A | NP_005546.2:p.Ala161= | |
| NM_005555.4:c.483C>A MANE Select | NP_005546.2:p.Ala161= |