Linked Data
ClinVar Variation Id:
2176674
dbSNP Id:
rs1254930380
gnomAD v2:
11-64519079-A-G
gnomAD v3:
11-64751607-A-G
gnomAD v4:
11-64751607-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751607A>G , CM000673.2:g.64751607A>G | GRCh38 |
| NC_000011.9:g.64519079A>G , CM000673.1:g.64519079A>G | GRCh37 |
| NC_000011.8:g.64275655A>G | NCBI36 |
| NG_013018.1:g.14109T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1817T>C MANE Select | ENSP00000164139.3:p.Ile606Thr | |
| ENST00000164139.3:c.1817T>C | ENSP00000164139.3:p.Ile606Thr | |
| ENST00000377432.7:c.1553T>C | ENSP00000366650.3:p.Ile518Thr | |
| ENST00000462303.1:n.141T>C | ||
| NM_001164716.1:c.1553T>C | NP_001158188.1:p.Ile518Thr | |
| NM_005609.2:c.1817T>C | NP_005600.1:p.Ile606Thr | |
| NM_005609.3:c.1817T>C | NP_005600.1:p.Ile606Thr | |
| NM_005609.4:c.1817T>C MANE Select | NP_005600.1:p.Ile606Thr |