Linked Data
ClinVar Variation Id:
966098
dbSNP Id:
rs368776882
ExAC:
3:38793942 C / T
gnomAD v2:
3-38793942-C-T
gnomAD v3:
3-38752451-C-T
gnomAD v4:
3-38752451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752451C>T , CM000665.2:g.38752451C>T | GRCh38 |
| NC_000003.11:g.38793942C>T , CM000665.1:g.38793942C>T | GRCh37 |
| NC_000003.10:g.38768946C>T | NCBI36 |
| NG_031891.2:g.46560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1523G>A MANE Select | ENSP00000390600.2:p.Arg508Gln | |
| ENST00000643924.1:c.1523G>A | ENSP00000495595.1:p.Arg508Gln | |
| ENST00000655275.1:c.1550G>A | ENSP00000499510.1:p.Arg517Gln | |
| ENST00000449082.2:c.1523G>A | ENSP00000390600.2:p.Arg508Gln | |
| NM_001293306.2:c.1523G>A | NP_001280235.2:p.Arg508Gln | |
| NM_001293307.2:c.1462-2267G>A | NP_001280236.2:n.1462-2267G>A | |
| NM_006514.3:c.1523G>A | NP_006505.3:p.Arg508Gln | |
| XM_005265371.2:c.1532G>A | XP_005265428.1:p.Arg511Gln | |
| XM_011533993.1:c.1532G>A | XP_011532295.1:p.Arg511Gln | |
| XM_011533994.1:c.1471-2267G>A | XP_011532296.1:n.1471-2267G>A | |
| XM_005265371.3:c.1532G>A | XP_005265428.1:p.Arg511Gln | |
| XM_011533993.2:c.1532G>A | XP_011532295.1:p.Arg511Gln | |
| XM_011533994.2:c.1471-2267G>A | XP_011532296.1:n.1471-2267G>A | |
| NM_006514.4:c.1523G>A MANE Select | NP_006505.4:p.Arg508Gln |