Linked Data
ClinVar Variation Id:
317123
ClinVar RCV Id:
RCV000358686
dbSNP Id:
rs886051479
gnomAD v4:
15-74339272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339272C>T , CM000677.2:g.74339272C>T | GRCh38 |
| NC_000015.9:g.74631613C>T , CM000677.1:g.74631613C>T | GRCh37 |
| NC_000015.8:g.72418666C>T | NCBI36 |
| NG_007973.1:g.33470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1201G>A MANE Select | ENSP00000268053.6:p.Asp401Asn | |
| ENST00000268053.10:c.1201G>A | ENSP00000268053.6:p.Asp401Asn | |
| ENST00000358632.8:c.727G>A | ENSP00000351455.4:p.Asp243Asn | |
| ENST00000435365.5:c.1157+315G>A | ENSP00000391081.1:n.1157+315G>A | |
| ENST00000498141.1:n.44G>A | ||
| NM_000781.2:c.1201G>A | NP_000772.2:p.Asp401Asn | |
| NM_001099773.1:c.727G>A | NP_001093243.1:p.Asp243Asn | |
| NM_000781.3:c.1201G>A MANE Select | NP_000772.2:p.Asp401Asn | |
| NM_001099773.2:c.727G>A | NP_001093243.1:p.Asp243Asn |