Linked Data
ClinVar Variation Id:
1004026
ClinVar RCV Id:
RCV001300663
dbSNP Id:
rs943541215
gnomAD v2:
16-81391431-G-T
gnomAD v3:
16-81357826-G-T
gnomAD v4:
16-81357826-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357826G>T , CM000678.2:g.81357826G>T | GRCh38 |
| NC_000016.9:g.81391431G>T , CM000678.1:g.81391431G>T | GRCh37 |
| NC_000016.8:g.79948932G>T | NCBI36 |
| NG_009007.1:g.47861G>T , LRG_242:g.47861G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*576G>T | ENSP00000498114.1:n.*576G>T | |
| ENST00000648994.2:c.868G>T MANE Select | ENSP00000497351.1:p.Ala290Ser | |
| ENST00000650388.1:c.402G>T | ENSP00000498081.1:n.402G>T | |
| ENST00000568107.2:c.868G>T | ENSP00000476795.1:p.Ala290Ser | |
| NM_022041.3:c.868G>T , LRG_242t1:c.868G>T | NP_071324.1:p.Ala290Ser | |
| XM_017023734.1:c.229G>T | XP_016879223.1:p.Ala77Ser | |
| NM_001377486.1:c.229G>T | NP_001364415.1:p.Ala77Ser | |
| NM_022041.4:c.868G>T MANE Select | NP_071324.1:p.Ala290Ser |