Linked Data
ClinVar Variation Id:
404126
dbSNP Id:
rs1060500104
gnomAD v2:
15-73614908-C-G
gnomAD v3:
15-73322567-C-G
gnomAD v4:
15-73322567-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322567C>G , CM000677.2:g.73322567C>G | GRCh38 |
| NC_000015.9:g.73614908C>G , CM000677.1:g.73614908C>G | GRCh37 |
| NC_000015.8:g.71401961C>G | NCBI36 |
| NG_009063.1:g.51698G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.3526G>C MANE Select | ENSP00000261917.3:p.Gly1176Arg | |
| ENST00000261917.3:c.3526G>C | ENSP00000261917.3:p.Gly1176Arg | |
| NM_005477.2:c.3526G>C | NP_005468.1:p.Gly1176Arg | |
| XM_011521148.1:c.2308G>C | XP_011519450.1:p.Gly770Arg | |
| XM_011521148.2:c.2308G>C | XP_011519450.1:p.Gly770Arg | |
| NM_005477.3:c.3526G>C MANE Select | NP_005468.1:p.Gly1176Arg |