Linked Data
ClinVar Variation Id:
531641
dbSNP Id:
rs752383339
ExAC:
1:193117082 A / G
gnomAD v2:
1-193117082-A-G
gnomAD v4:
1-193147952-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193147952A>G , CM000663.2:g.193147952A>G | GRCh38 |
| NC_000001.10:g.193117082A>G , CM000663.1:g.193117082A>G | GRCh37 |
| NC_000001.9:g.191383705A>G | NCBI36 |
| NG_012691.1:g.30995A>G , LRG_507:g.30995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.815A>G MANE Select | ENSP00000356405.4:p.Asn272Ser | |
| ENST00000635846.1:c.729+5886A>G | ENSP00000490035.1:n.729+5886A>G | |
| ENST00000643006.1:c.815A>G | ENSP00000496633.1:p.Asn272Ser | |
| ENST00000643784.1:c.*291A>G | ENSP00000494944.1:n.*291A>G | |
| ENST00000647662.1:n.716A>G | ||
| ENST00000648071.1:c.*791A>G | ENSP00000497513.1:n.*791A>G | |
| ENST00000649606.1:n.828A>G | ||
| ENST00000649895.1:n.1033A>G | ||
| ENST00000650197.1:c.815A>G | ENSP00000496929.1:p.Asn272Ser | |
| ENST00000367435.3:c.815A>G | ENSP00000356405.3:p.Asn272Ser | |
| NM_024529.4:c.815A>G , LRG_507t1:c.815A>G | NP_078805.3:p.Asn272Ser | |
| XM_006711537.2:c.815A>G | XP_006711600.1:p.Asn272Ser | |
| XM_006711537.4:c.815A>G | XP_006711600.1:p.Asn272Ser | |
| NM_024529.5:c.815A>G MANE Select | NP_078805.3:p.Asn272Ser |