Linked Data
ClinVar Variation Id:
2532108
ClinVar RCV Id:
RCV003280893
dbSNP Id:
rs201813053
gnomAD v3:
19-54174249-C-T
gnomAD v4:
19-54174249-C-T
MyVariant Identifiers:
chr19:g.54174249C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54174249C>T , CM000681.2:g.54174249C>T | GRCh38 |
| NC_000019.8:g.59369755C>T | NCBI36 |
| NG_033045.2:g.20627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.1214G>A MANE Select | ENSP00000245615.1:p.Arg405His | |
| ENST00000245615.5:c.1214G>A | ENSP00000245615.1:p.Arg405His | |
| ENST00000338624.10:c.995G>A | ENSP00000344377.5:p.Arg332His | |
| ENST00000431666.6:c.995G>A | ENSP00000410503.2:p.Arg332His | |
| ENST00000437868.5:c.*874G>A | ENSP00000404915.1:n.*874G>A | |
| ENST00000449249.5:c.532G>A | ENSP00000406794.1:n.532G>A | |
| ENST00000494142.1:n.2209G>A | ||
| NM_001146056.2:c.995G>A | NP_001139528.1:p.Arg332His | |
| NM_001146083.2:c.995G>A | NP_001139555.1:p.Arg332His | |
| NM_024298.4:c.1214G>A | NP_077274.3:p.Arg405His | |
| XM_011527299.1:c.1214G>A | XP_011525601.1:p.Arg405His | |
| XM_011527300.1:c.1214G>A | XP_011525602.1:p.Arg405His | |
| XM_011527299.3:c.1214G>A | XP_011525601.1:p.Arg405His | |
| XM_011527300.2:c.1214G>A | XP_011525602.1:p.Arg405His | |
| NM_024298.5:c.1214G>A MANE Select | NP_077274.3:p.Arg405His | |
| NM_001146056.3:c.995G>A | NP_001139528.1:p.Arg332His | |
| NM_001146083.3:c.995G>A | NP_001139555.1:p.Arg332His |