Linked Data
ClinVar Variation Id:
658943
dbSNP Id:
rs1589480590
gnomAD v3:
10-80276387-C-T
gnomAD v4:
10-80276387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276387C>T , CM000672.2:g.80276387C>T | GRCh38 |
| NC_000010.10:g.82036143C>T , CM000672.1:g.82036143C>T | GRCh37 |
| NC_000010.9:g.82026123C>T | NCBI36 |
| NG_008083.1:g.18292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.757G>A MANE Select | ENSP00000361287.3:p.Gly253Arg | |
| ENST00000372213.7:c.757G>A | ENSP00000361287.3:p.Gly253Arg | |
| NM_000429.2:c.757G>A | NP_000420.1:p.Gly253Arg | |
| XM_005269842.3:c.757G>A | XP_005269899.1:p.Gly253Arg | |
| XM_005269843.3:c.634G>A | XP_005269900.1:p.Gly212Arg | |
| NM_000429.3:c.757G>A MANE Select | NP_000420.1:p.Gly253Arg |