Linked Data
ClinVar Variation Id:
213846
ClinVar RCV Id:
RCV000197949
dbSNP Id:
rs863223793
gnomAD v3:
1-218437363-G-T
gnomAD v4:
1-218437363-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437363G>T , CM000663.2:g.218437363G>T | GRCh38 |
| NC_000001.10:g.218610705G>T , CM000663.1:g.218610705G>T | GRCh37 |
| NC_000001.9:g.216677328G>T | NCBI36 |
| NG_027721.1:g.97030G>T | |
| NG_027721.2:g.97030G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.953G>T MANE Select | ENSP00000355897.4:p.Cys318Phe | |
| ENST00000366929.4:c.1037G>T | ENSP00000355896.4:p.Cys346Phe | |
| ENST00000366930.8:c.953G>T | ENSP00000355897.4:p.Cys318Phe | |
| ENST00000479322.1:n.437G>T | ||
| NM_001135599.2:c.1037G>T | NP_001129071.1:p.Cys346Phe | |
| NM_003238.3:c.953G>T | NP_003229.1:p.Cys318Phe | |
| NM_001135599.3:c.1037G>T | NP_001129071.1:p.Cys346Phe | |
| NM_003238.4:c.953G>T | NP_003229.1:p.Cys318Phe | |
| NR_138148.1:n.2256G>T | ||
| NR_138149.1:n.2340G>T | ||
| NM_003238.5:c.953G>T | NP_003229.1:p.Cys318Phe | |
| NM_003238.6:c.953G>T MANE Select | NP_003229.1:p.Cys318Phe | |
| NM_001135599.4:c.1037G>T | NP_001129071.1:p.Cys346Phe | |
| NR_138148.2:n.2204G>T | ||
| NR_138149.2:n.2288G>T |