Linked Data
ClinVar Variation Id:
475820
dbSNP Id:
rs10455840
ExAC:
6:159401898 C / T
gnomAD v2:
6-159401898-C-T
gnomAD v3:
6-158980866-C-T
gnomAD v4:
6-158980866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158980866C>T , CM000668.2:g.158980866C>T | GRCh38 |
| NC_000006.11:g.159401898C>T , CM000668.1:g.159401898C>T | GRCh37 |
| NC_000006.10:g.159321886C>T | NCBI36 |
| NG_051819.1:g.24322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367069.7:c.767G>A MANE Select | ENSP00000356036.1:p.Arg256Gln | |
| ENST00000252655.1:c.1193G>A | ENSP00000252655.1:p.Arg398Gln | |
| ENST00000367069.6:c.767G>A | ENSP00000356036.1:p.Arg256Gln | |
| ENST00000449822.5:c.479G>A | ENSP00000393195.1:p.Arg160Gln | |
| NM_031924.4:c.1193G>A | NP_114130.3:p.Arg398Gln | |
| XM_005267153.3:c.905G>A | XP_005267210.1:p.Arg302Gln | |
| XR_245553.2:n.1649G>A | ||
| NM_001346418.1:c.905G>A | NP_001333347.1:p.Arg302Gln | |
| NM_031924.5:c.1193G>A | NP_114130.3:p.Arg398Gln | |
| NR_144434.1:n.1404G>A | ||
| XM_017011347.2:c.377G>A | XP_016866836.1:p.Arg126Gln | |
| XM_024446566.1:c.377G>A | XP_024302334.1:p.Arg126Gln | |
| XR_001743668.2:n.1643G>A | ||
| XR_001743669.2:n.1643G>A | ||
| XR_001743670.2:n.1355G>A | ||
| XR_001743671.2:n.849G>A | ||
| NM_031924.6:c.1193G>A | NP_114130.3:p.Arg398Gln | |
| NM_031924.8:c.767G>A MANE Select | NP_114130.4:p.Arg256Gln |