Linked Data
dbSNP Id:
rs748401975
ExAC:
12:52845424 G / A
gnomAD v2:
12-52845424-G-A
gnomAD v4:
12-52451640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451640G>A , CM000674.2:g.52451640G>A | GRCh38 |
| NC_000012.11:g.52845424G>A , CM000674.1:g.52845424G>A | GRCh37 |
| NC_000012.10:g.51131691G>A | NCBI36 |
| NG_008299.1:g.5487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.439C>T MANE Select | ENSP00000252252.3:p.Pro147Ser | |
| ENST00000252252.3:c.439C>T | ENSP00000252252.3:p.Pro147Ser | |
| NM_005555.3:c.439C>T | NP_005546.2:p.Pro147Ser | |
| NM_005555.4:c.439C>T MANE Select | NP_005546.2:p.Pro147Ser |