Linked Data
ClinVar Variation Id:
388906
dbSNP Id:
rs748723735
ExAC:
9:94794767 C / A
gnomAD v2:
9-94794767-C-A
gnomAD v3:
9-92032485-C-A
gnomAD v4:
9-92032485-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92032485C>A , CM000671.2:g.92032485C>A | GRCh38 |
| NC_000009.11:g.94794767C>A , CM000671.1:g.94794767C>A | GRCh37 |
| NC_000009.10:g.93834588C>A | NCBI36 |
| NG_007950.1:g.87924G>T , LRG_272:g.87924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686600.1:c.*114G>T | ENSP00000509268.1:n.*114G>T | |
| ENST00000686799.1:n.1726G>T | ||
| ENST00000687427.1:c.*158G>T | ENSP00000509426.1:n.*158G>T | |
| ENST00000687817.1:c.*3800G>T | ENSP00000508926.1:n.*3800G>T | |
| ENST00000687972.1:c.1462G>T | ENSP00000509208.1:p.Ala488Ser | |
| ENST00000689261.1:n.1309G>T | ||
| ENST00000689401.1:c.*1652G>T | ENSP00000510251.1:n.*1652G>T | |
| ENST00000690095.1:n.1790G>T | ||
| ENST00000690139.1:c.*1103G>T | ENSP00000510483.1:n.*1103G>T | |
| ENST00000692458.1:n.2040G>T | ||
| ENST00000262554.7:c.1402G>T MANE Select | ENSP00000262554.2:p.Ala468Ser | |
| ENST00000642671.1:c.1629+2325G>T | ENSP00000495764.1:n.1629+2325G>T | |
| ENST00000643599.1:c.1396+2325G>T | ENSP00000494770.1:n.1396+2325G>T | |
| ENST00000644140.1:c.*1143G>T | ENSP00000493933.1:n.*1143G>T | |
| ENST00000646481.1:c.1260+2325G>T | ENSP00000496627.1:n.1260+2325G>T | |
| ENST00000646534.1:c.*1205G>T | ENSP00000495388.1:n.*1205G>T | |
| ENST00000262554.6:c.1402G>T | ENSP00000262554.2:p.Ala468Ser | |
| ENST00000469778.1:n.359G>T | ||
| NM_001281303.1:c.1370G>T | NP_001268232.1:p.Ser457Ile | |
| NM_006415.3:c.1402G>T | NP_006406.1:p.Ala468Ser | |
| XM_011518139.1:c.937G>T | XP_011516441.1:p.Ala313Ser | |
| XM_011518139.3:c.937G>T | XP_011516441.1:p.Ala313Ser | |
| XM_017014200.2:c.1036G>T | XP_016869689.1:p.Ala346Ser | |
| XM_017014201.2:c.1036G>T | XP_016869690.1:p.Ala346Ser | |
| XM_024447378.1:c.937G>T | XP_024303146.1:p.Ala313Ser | |
| XM_024447379.1:c.937G>T | XP_024303147.1:p.Ala313Ser | |
| XR_002956744.1:n.1552G>T | ||
| NM_006415.4:c.1402G>T MANE Select | NP_006406.1:p.Ala468Ser | |
| NM_001281303.2:c.1370G>T | NP_001268232.1:p.Ser457Ile | |
| NM_001368272.1:c.1036G>T | NP_001355201.1:p.Ala346Ser | |
| NM_001368273.1:c.937G>T | NP_001355202.1:p.Ala313Ser |