Linked Data
ClinVar Variation Id:
887049
ClinVar RCV Id:
RCV001119551
dbSNP Id:
rs763438490
gnomAD v2:
16-81388167-A-G
gnomAD v4:
16-81354562-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354562A>G , CM000678.2:g.81354562A>G | GRCh38 |
| NC_000016.9:g.81388167A>G , CM000678.1:g.81388167A>G | GRCh37 |
| NC_000016.8:g.79945668A>G | NCBI36 |
| NG_009007.1:g.44597A>G , LRG_242:g.44597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*148A>G | ENSP00000498114.1:n.*148A>G | |
| ENST00000648994.2:c.440A>G MANE Select | ENSP00000497351.1:p.His147Arg | |
| ENST00000650388.1:c.168-2223A>G | ENSP00000498081.1:n.168-2223A>G | |
| ENST00000674788.1:n.565A>G | ||
| ENST00000568107.2:c.440A>G | ENSP00000476795.1:p.His147Arg | |
| NM_022041.3:c.440A>G , LRG_242t1:c.440A>G | NP_071324.1:p.His147Arg | |
| XM_017023734.1:c.-200A>G | XP_016879223.1:n.-200A>G | |
| NM_001377486.1:c.-200A>G | NP_001364415.1:n.-200A>G | |
| NM_022041.4:c.440A>G MANE Select | NP_071324.1:p.His147Arg |