Linked Data
ClinVar Variation Id:
1383679
ClinVar RCV Id:
RCV001892784
dbSNP Id:
rs2151780440
gnomAD v4:
6-31946555-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946555A>G , CM000668.2:g.31946555A>G | GRCh38 |
| NC_000006.11:g.31914332A>G , CM000668.1:g.31914332A>G | GRCh37 |
| NC_000006.10:g.32022311A>G | NCBI36 |
| NG_008191.1:g.5612A>G , LRG_136:g.5612A>G | |
| NG_011730.1:g.24067A>G , LRG_26:g.24067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.424A>G | ||
| ENST00000483004.2:c.247A>G | ENSP00000419887.2:p.Ser83Gly | |
| ENST00000497841.6:c.247A>G | ENSP00000513847.1:p.Ser83Gly | |
| ENST00000698628.1:c.247A>G | ENSP00000513848.1:p.Ser83Gly | |
| ENST00000698629.1:n.424A>G | ||
| ENST00000698630.1:n.408A>G | ||
| ENST00000698631.1:n.403A>G | ||
| ENST00000698632.1:n.375A>G | ||
| ENST00000698633.1:n.345A>G | ||
| ENST00000698636.1:n.469A>G | ||
| ENST00000425368.7:c.247A>G MANE Select | ENSP00000416561.2:p.Ser83Gly | |
| ENST00000425368.6:c.247A>G | ENSP00000416561.2:p.Ser83Gly | |
| ENST00000452035.6:n.247A>G | ||
| ENST00000456570.5:c.1753A>G | ENSP00000410815.1:p.Ser585Gly | |
| ENST00000460718.5:c.134A>G | ENSP00000417793.1:p.Glu45Gly | |
| ENST00000472581.1:n.494A>G | ||
| ENST00000475617.5:c.247A>G | ENSP00000420090.1:p.Ser83Gly | |
| ENST00000477310.1:c.1352-452A>G | ENSP00000418996.1:n.1352-452A>G | |
| NM_001710.5:c.247A>G , LRG_136t1:c.247A>G | NP_001701.2:p.Ser83Gly | |
| NM_001710.6:c.247A>G MANE Select | NP_001701.2:p.Ser83Gly |