Linked Data
dbSNP Id:
rs370736527
ExAC:
11:67378898 A / G
gnomAD v2:
11-67378898-A-G
gnomAD v3:
11-67611427-A-G
gnomAD v4:
11-67611427-A-G
MyVariant Identifiers:
chr11:g.67378898A>G (hg19)
chr11:g.67378898_67378901delinsGCCT (hg19)
chr11:g.67611427A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611427A>G , CM000673.2:g.67611427A>G | GRCh38 |
| NC_000011.9:g.67378898A>G , CM000673.1:g.67378898A>G | GRCh37 |
| NC_000011.8:g.67135474A>G | NCBI36 |
| NG_013353.1:g.9576A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.938A>G MANE Select | ENSP00000322450.6:p.Asn313Ser | |
| ENST00000647561.1:c.938A>G | ENSP00000497587.1:p.Asn313Ser | |
| ENST00000322776.10:c.938A>G | ENSP00000322450.6:p.Asn313Ser | |
| ENST00000415352.6:c.917A>G | ENSP00000395368.2:p.Asn306Ser | |
| ENST00000526169.1:n.656-95A>G | ||
| ENST00000526770.5:n.1221A>G | ||
| ENST00000527355.5:c.227A>G | ENSP00000432637.1:p.Asn76Ser | |
| ENST00000527923.1:n.280A>G | ||
| ENST00000529927.5:c.911A>G | ENSP00000436766.1:p.Asn304Ser | |
| ENST00000532303.5:c.635A>G | ENSP00000432015.1:p.Asn212Ser | |
| ENST00000533919.5:c.392-50A>G | ENSP00000435199.1:n.392-50A>G | |
| NM_001166102.1:c.911A>G | NP_001159574.1:p.Asn304Ser | |
| NM_007103.3:c.938A>G | NP_009034.2:p.Asn313Ser | |
| NM_001166102.2:c.911A>G | NP_001159574.1:p.Asn304Ser | |
| NM_007103.4:c.938A>G MANE Select | NP_009034.2:p.Asn313Ser |