Linked Data
ClinVar Variation Id:
98830
ClinVar RCV Id:
RCV000085155
RCV000132582
RCV001047503
RCV001074416
RCV001275340
RCV001250675
RCV002498450
RCV004527312
dbSNP Id:
rs61751281
gnomAD v2:
1-68912520-C-T
gnomAD v3:
1-68446837-C-T
gnomAD v4:
1-68446837-C-T
ERepo:
CA226491/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446837C>T , CM000663.2:g.68446837C>T | GRCh38 |
| NC_000001.10:g.68912520C>T , CM000663.1:g.68912520C>T | GRCh37 |
| NC_000001.9:g.68685108C>T | NCBI36 |
| NG_008472.1:g.8123G>A | |
| NG_008472.2:g.8123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.118G>A MANE Select | ENSP00000262340.5:p.Gly40Ser | |
| ENST00000262340.5:c.118G>A | ENSP00000262340.5:p.Gly40Ser | |
| NM_000329.2:c.118G>A | NP_000320.1:p.Gly40Ser | |
| XM_017002027.1:c.-32+1787G>A | XP_016857516.1:n.-32+1787G>A | |
| NM_000329.3:c.118G>A MANE Select | NP_000320.1:p.Gly40Ser |