Linked Data
dbSNP Id:
rs1591111334
gnomAD v4:
11-67611458-T-C
MyVariant Identifiers:
chr11:g.67378929T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611458T>C , CM000673.2:g.67611458T>C | GRCh38 |
| NC_000011.9:g.67378929T>C , CM000673.1:g.67378929T>C | GRCh37 |
| NC_000011.8:g.67135505T>C | NCBI36 |
| NG_013353.1:g.9607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.969T>C MANE Select | ENSP00000322450.6:p.Ser323= | |
| ENST00000647561.1:c.969T>C | ENSP00000497587.1:p.Ser323= | |
| ENST00000322776.10:c.969T>C | ENSP00000322450.6:p.Ser323= | |
| ENST00000415352.6:c.948T>C | ENSP00000395368.2:p.Ser316= | |
| ENST00000526169.1:n.656-64T>C | ||
| ENST00000526770.5:n.1252T>C | ||
| ENST00000527355.5:c.258T>C | ENSP00000432637.1:p.Ser86= | |
| ENST00000527923.1:n.311T>C | ||
| ENST00000529927.5:c.942T>C | ENSP00000436766.1:p.Ser314= | |
| ENST00000532303.5:c.666T>C | ENSP00000432015.1:p.Ser222= | |
| ENST00000533919.5:c.392-19T>C | ENSP00000435199.1:n.392-19T>C | |
| NM_001166102.1:c.942T>C | NP_001159574.1:p.Ser314= | |
| NM_007103.3:c.969T>C | NP_009034.2:p.Ser323= | |
| NM_001166102.2:c.942T>C | NP_001159574.1:p.Ser314= | |
| NM_007103.4:c.969T>C MANE Select | NP_009034.2:p.Ser323= |