Linked Data
ClinVar Variation Id:
453285
ClinVar RCV Id:
RCV000542205
dbSNP Id:
rs1311814599
gnomAD v3:
18-21440302-G-A
gnomAD v4:
18-21440302-G-A
PubMed:
PMID:29100091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21440302G>A , CM000680.2:g.21440302G>A | GRCh38 |
| NC_000018.9:g.19020263G>A , CM000680.1:g.19020263G>A | GRCh37 |
| NC_000018.8:g.17274261G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579454.2:c.1112G>A | ENSP00000463926.2:p.Arg371Gln | |
| ENST00000424526.7:c.983G>A MANE Select | ENSP00000412060.1:p.Arg328Gln | |
| ENST00000424526.6:c.983G>A | ENSP00000412060.1:p.Arg328Gln | |
| ENST00000269218.10:c.983G>A | ENSP00000269218.6:p.Arg328Gln | |
| ENST00000424526.5:c.983G>A | ENSP00000412060.1:p.Arg328Gln | |
| ENST00000578368.5:n.1088G>A | ||
| ENST00000579454.1:c.504G>A | ||
| ENST00000580732.6:c.983G>A | ENSP00000464162.1:p.Arg328Gln | |
| ENST00000584446.5:n.1254G>A | ||
| NM_001142966.1:c.983G>A | NP_001136438.1:p.Arg328Gln | |
| XM_006722547.1:c.1112G>A | XP_006722610.1:p.Arg371Gln | |
| XM_011526176.1:c.1112G>A | XP_011524478.1:p.Arg371Gln | |
| XM_011526177.1:c.1112G>A | XP_011524479.1:p.Arg371Gln | |
| XM_011526178.1:c.983G>A | XP_011524480.1:p.Arg328Gln | |
| XM_011526179.1:c.1112G>A | XP_011524481.1:p.Arg371Gln | |
| XM_011526180.1:c.1112G>A | XP_011524482.1:p.Arg371Gln | |
| XM_011526181.1:c.983G>A | XP_011524483.1:p.Arg328Gln | |
| XR_935269.1:n.172+10581C>T | ||
| XR_935270.1:n.172+10581C>T | ||
| XR_935271.1:n.172+10581C>T | ||
| XR_935272.1:n.172+10581C>T | ||
| NM_001142966.2:c.983G>A | NP_001136438.1:p.Arg328Gln | |
| XM_006722547.3:c.1112G>A | XP_006722610.1:p.Arg371Gln | |
| XM_011526179.3:c.1112G>A | XP_011524481.1:p.Arg371Gln | |
| XM_017025988.1:c.1112G>A | XP_016881477.1:p.Arg371Gln | |
| XM_017025989.1:c.1112G>A | XP_016881478.1:p.Arg371Gln | |
| XM_017025990.1:c.1112G>A | XP_016881479.1:p.Arg371Gln | |
| XM_017025991.1:c.1112G>A | XP_016881480.1:p.Arg371Gln | |
| XM_017025992.1:c.983G>A | XP_016881481.1:p.Arg328Gln | |
| XM_017025993.1:c.983G>A | XP_016881482.1:p.Arg328Gln | |
| XM_017025994.1:c.1112G>A | XP_016881483.1:p.Arg371Gln | |
| XM_017025995.1:c.1112G>A | XP_016881484.1:p.Arg371Gln | |
| XM_017025996.1:c.983G>A | XP_016881485.1:p.Arg328Gln | |
| XR_001753366.1:n.134+10581C>T | ||
| XR_935272.2:n.141+10581C>T | ||
| NM_001142966.3:c.983G>A MANE Select | NP_001136438.1:p.Arg328Gln |