Linked Data
ClinVar Variation Id:
2010098
ClinVar RCV Id:
RCV002842924
dbSNP Id:
rs1292196044
gnomAD v2:
6-31918471-C-G
gnomAD v4:
6-31950694-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950694C>G , CM000668.2:g.31950694C>G | GRCh38 |
| NC_000006.11:g.31918471C>G , CM000668.1:g.31918471C>G | GRCh37 |
| NC_000006.10:g.32026450C>G | NCBI36 |
| NG_008191.1:g.9751C>G , LRG_136:g.9751C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2092C>G | ||
| ENST00000483004.2:c.1484C>G | ENSP00000419887.2:p.Ala495Gly | |
| ENST00000698628.1:c.1624+291C>G | ENSP00000513848.1:n.1624+291C>G | |
| ENST00000698629.1:n.1877C>G | ||
| ENST00000698630.1:n.2416C>G | ||
| ENST00000698631.1:n.2417C>G | ||
| ENST00000698632.1:n.3211C>G | ||
| ENST00000698633.1:n.3101C>G | ||
| ENST00000698636.1:n.1922C>G | ||
| ENST00000425368.7:c.1700C>G MANE Select | ENSP00000416561.2:p.Ala567Gly | |
| ENST00000425368.6:c.1700C>G | ENSP00000416561.2:p.Ala567Gly | |
| ENST00000456570.5:c.3206C>G | ENSP00000410815.1:p.Ala1069Gly | |
| ENST00000467360.1:n.826C>G | ||
| ENST00000477310.1:c.2753C>G | ENSP00000418996.1:p.Ala918Gly | |
| ENST00000483004.1:c.322C>G | ||
| NM_001710.5:c.1700C>G , LRG_136t1:c.1700C>G | NP_001701.2:p.Ala567Gly | |
| NM_001710.6:c.1700C>G MANE Select | NP_001701.2:p.Ala567Gly |