Linked Data
ClinVar Variation Id:
155750
dbSNP Id:
rs200561798
ExAC:
1:10421790 T / C
gnomAD v2:
1-10421790-T-C
gnomAD v3:
1-10361732-T-C
gnomAD v4:
1-10361732-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10361732T>C , CM000663.2:g.10361732T>C | GRCh38 |
| NC_000001.10:g.10421790T>C , CM000663.1:g.10421790T>C | GRCh37 |
| NC_000001.9:g.10344377T>C | NCBI36 |
| NG_008069.1:g.156027T>C , LRG_252:g.156027T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4274T>C | ENSP00000512668.1:p.Val1425Ala | |
| ENST00000696503.1:c.4136T>C | ENSP00000512669.1:p.Val1379Ala | |
| ENST00000696504.1:c.4136T>C | ENSP00000512670.1:p.Val1379Ala | |
| ENST00000676179.1:c.4211T>C MANE Select | ENSP00000502065.1:p.Val1404Ala | |
| ENST00000263934.10:c.4073T>C | ENSP00000263934.6:p.Val1358Ala | |
| ENST00000377081.5:c.4211T>C | ENSP00000366284.1:p.Val1404Ala | |
| ENST00000377086.5:c.4211T>C | ENSP00000366290.1:p.Val1404Ala | |
| ENST00000465635.5:n.666T>C | ||
| ENST00000483340.1:n.747T>C | ||
| ENST00000620295.2:c.4169T>C | ENSP00000478500.1:p.Val1390Ala | |
| ENST00000622724.3:c.4133T>C | ENSP00000480063.1:p.Val1378Ala | |
| ENST00000635499.1:c.256T>C | ||
| NM_015074.3:c.4073T>C , LRG_252t1:c.4073T>C | NP_055889.2:p.Val1358Ala | |
| XR_946953.1:n.356-266A>G | ||
| NM_001365951.1:c.4211T>C | NP_001352880.1:p.Val1404Ala | |
| NM_001365952.1:c.4211T>C | NP_001352881.1:p.Val1404Ala | |
| XR_946953.2:n.231-266A>G | ||
| NM_001365951.3:c.4211T>C MANE Select | NP_001352880.1:p.Val1404Ala |