Linked Data
dbSNP Id:
rs759924821
ExAC:
11:22646818 G / A
gnomAD v2:
11-22646818-G-A
gnomAD v4:
11-22625272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625272G>A , CM000673.2:g.22625272G>A | GRCh38 |
| NC_000011.9:g.22646818G>A , CM000673.1:g.22646818G>A | GRCh37 |
| NC_000011.8:g.22603394G>A | NCBI36 |
| NG_007425.1:g.5570C>T , LRG_527:g.5570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.539C>T MANE Select | ENSP00000330875.3:p.Ala180Val | |
| ENST00000327470.4:c.539C>T | ENSP00000330875.3:p.Ala180Val | |
| NM_022725.3:c.539C>T , LRG_527t1:c.539C>T | NP_073562.1:p.Ala180Val | |
| NM_022725.4:c.539C>T MANE Select | NP_073562.1:p.Ala180Val |