Linked Data
dbSNP Id:
rs756838317
ExAC:
21:43176720 C / G
gnomAD v2:
21-43176720-C-G
gnomAD v4:
21-41756560-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756560C>G , CM000683.2:g.41756560C>G | GRCh38 |
| NC_000021.8:g.43176720C>G , CM000683.1:g.43176720C>G | GRCh37 |
| NC_000021.7:g.42049789C>G | NCBI36 |
| NG_032113.1:g.15530G>C | |
| NG_032113.2:g.15530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.439G>C MANE Select | ENSP00000332454.3:p.Ala147Pro | |
| ENST00000332512.7:c.439G>C | ENSP00000332454.3:p.Ala147Pro | |
| ENST00000352483.3:c.439G>C | ENSP00000330161.2:p.Ala147Pro | |
| NM_020639.2:c.439G>C | NP_065690.2:p.Ala147Pro | |
| NM_020639.3:c.439G>C MANE Select | NP_065690.2:p.Ala147Pro |