Linked Data
ClinVar Variation Id:
448957
ClinVar RCV Id:
RCV000520304
dbSNP Id:
rs1248889536
gnomAD v4:
18-46610789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46610789C>T , CM000680.2:g.46610789C>T | GRCh38 |
| NC_000018.9:g.44190752C>T , CM000680.1:g.44190752C>T | GRCh37 |
| NC_000018.8:g.42444750C>T | NCBI36 |
| NG_016646.1:g.51245G>A | |
| NG_016646.2:g.51245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.746G>A MANE Select | ENSP00000496347.1:p.Trp249Ter | |
| ENST00000441551.6:c.746G>A | ENSP00000387621.2:p.Trp249Ter | |
| ENST00000536736.5:c.746G>A | ENSP00000444586.1:p.Trp249Ter | |
| NM_144612.6:c.746G>A | NP_653213.6:p.Trp249Ter | |
| XM_011525803.1:c.746G>A | XP_011524105.1:p.Trp249Ter | |
| XM_017025548.1:c.746G>A | XP_016881037.1:p.Trp249Ter | |
| NM_001384474.1:c.746G>A MANE Select | NP_001371403.1:p.Trp249Ter | |
| NM_144612.7:c.746G>A | NP_653213.6:p.Trp249Ter |