Linked Data
ClinVar Variation Id:
291785
ClinVar RCV Id:
RCV000336089
dbSNP Id:
rs2273346
ExAC:
1:11090897 A / G
gnomAD v2:
1-11090897-A-G
gnomAD v3:
1-11030840-A-G
gnomAD v4:
1-11030840-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11030840A>G , CM000663.2:g.11030840A>G | GRCh38 |
| NC_000001.10:g.11090897A>G , CM000663.1:g.11090897A>G | GRCh37 |
| NC_000001.9:g.11013484A>G | NCBI36 |
| NG_007289.1:g.21389T>C | |
| NG_007289.2:g.21389T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699958.1:c.1025T>C | ENSP00000514717.1:p.Val342Ala | |
| ENST00000700088.1:c.1130T>C | ENSP00000514787.1:p.Val377Ala | |
| ENST00000700089.1:c.1127T>C | ENSP00000514788.1:n.1127T>C | |
| ENST00000700090.1:c.1009T>C | ENSP00000514789.1:n.1009T>C | |
| ENST00000700091.1:c.932T>C | ENSP00000514790.1:p.Val311Ala | |
| ENST00000700092.1:c.1109T>C | ENSP00000514791.1:p.Val370Ala | |
| ENST00000700093.1:c.1106T>C | ENSP00000514792.1:p.Val369Ala | |
| ENST00000700094.1:c.1138T>C | ENSP00000514793.1:n.1138T>C | |
| ENST00000700095.1:c.1130T>C | ENSP00000514794.1:p.Val377Ala | |
| ENST00000700096.1:c.933T>C | ENSP00000514795.1:n.933T>C | |
| ENST00000700097.1:c.1130T>C | ENSP00000514796.1:p.Val377Ala | |
| ENST00000700098.1:n.652T>C | ||
| ENST00000400897.8:c.1130T>C MANE Select | ENSP00000383690.3:p.Val377Ala | |
| ENST00000400897.7:c.1130T>C | ENSP00000383690.3:p.Val377Ala | |
| NM_006610.3:c.1130T>C | NP_006601.2:p.Val377Ala | |
| XR_001736931.1:n.1083T>C | ||
| XR_002958895.1:n.1041T>C | ||
| NM_006610.4:c.1130T>C MANE Select | NP_006601.2:p.Val377Ala |