Linked Data
ClinVar Variation Id:
316366
ClinVar RCV Id:
RCV000283843
RCV000298102
RCV000338852
RCV000353034
RCV000368091
RCV000396161
RCV000398246
RCV003765834
dbSNP Id:
rs886051245
gnomAD v4:
15-48430741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430741G>A , CM000677.2:g.48430741G>A | GRCh38 |
| NC_000015.9:g.48722938G>A , CM000677.1:g.48722938G>A | GRCh37 |
| NC_000015.8:g.46510230G>A | NCBI36 |
| NG_008805.2:g.220048C>T , LRG_778:g.220048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6801C>T | ENSP00000453958.2:p.Asn2267= | |
| ENST00000674301.2:c.*252C>T | ENSP00000501333.2:n.*252C>T | |
| ENST00000682170.1:n.410C>T | ||
| ENST00000316623.10:c.6801C>T MANE Select | ENSP00000325527.5:p.Asn2267= | |
| ENST00000674301.1:c.1905C>T | ENSP00000501333.1:n.1905C>T | |
| ENST00000316623.9:c.6801C>T | ENSP00000325527.5:p.Asn2267= | |
| ENST00000559133.5:c.2108C>T | ||
| ENST00000560720.1:n.88C>T | ||
| NM_000138.4:c.6801C>T , LRG_778t1:c.6801C>T | NP_000129.3:p.Asn2267= | |
| NM_000138.5:c.6801C>T MANE Select | NP_000129.3:p.Asn2267= |