Linked Data
ClinVar Variation Id:
13262
dbSNP Id:
rs116506614
ExAC:
1:16458722 C / T
gnomAD v2:
1-16458722-C-T
gnomAD v3:
1-16132227-C-T
gnomAD v4:
1-16132227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132227C>T , CM000663.2:g.16132227C>T | GRCh38 |
| NC_000001.10:g.16458722C>T , CM000663.1:g.16458722C>T | GRCh37 |
| NC_000001.9:g.16331309C>T | NCBI36 |
| NG_021396.1:g.28861G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358432.8:c.2162G>A MANE Select | ENSP00000351209.5:p.Arg721Gln | |
| ENST00000358432.7:c.2162G>A | ENSP00000351209.5:p.Arg721Gln | |
| NM_004431.3:c.2162G>A | NP_004422.2:p.Arg721Gln | |
| NM_001329090.1:c.2000G>A | NP_001316019.1:p.Arg667Gln | |
| NM_004431.4:c.2162G>A | NP_004422.2:p.Arg721Gln | |
| NM_004431.5:c.2162G>A MANE Select | NP_004422.2:p.Arg721Gln | |
| NM_001329090.2:c.2000G>A | NP_001316019.1:p.Arg667Gln |