Linked Data
ClinVar Variation Id:
990165
ClinVar RCV Id:
RCV001278132
dbSNP Id:
rs879123797
gnomAD v4:
1-68429804-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429804G>T , CM000663.2:g.68429804G>T | GRCh38 |
| NC_000001.10:g.68895487G>T , CM000663.1:g.68895487G>T | GRCh37 |
| NC_000001.9:g.68668075G>T | NCBI36 |
| NG_008472.1:g.25156C>A | |
| NG_008472.2:g.25156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1574C>A MANE Select | ENSP00000262340.5:p.Thr525Asn | |
| ENST00000262340.5:c.1574C>A | ENSP00000262340.5:p.Thr525Asn | |
| NM_000329.2:c.1574C>A | NP_000320.1:p.Thr525Asn | |
| XM_017002027.1:c.1298C>A | XP_016857516.1:p.Thr433Asn | |
| NM_000329.3:c.1574C>A MANE Select | NP_000320.1:p.Thr525Asn |