Linked Data
ClinVar Variation Id:
2096186
ClinVar RCV Id:
RCV003006058
dbSNP Id:
rs772197464
ExAC:
11:64526181 C / G
gnomAD v2:
11-64526181-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758709C>G , CM000673.2:g.64758709C>G | GRCh38 |
| NC_000011.9:g.64526181C>G , CM000673.1:g.64526181C>G | GRCh37 |
| NC_000011.8:g.64282757C>G | NCBI36 |
| NG_013018.1:g.7007G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.244-5G>C MANE Select | ENSP00000164139.3:n.244-5G>C | |
| ENST00000164139.3:c.244-5G>C | ENSP00000164139.3:n.244-5G>C | |
| ENST00000377432.7:c.244-443G>C | ENSP00000366650.3:n.244-443G>C | |
| NM_001164716.1:c.244-443G>C | NP_001158188.1:n.244-443G>C | |
| NM_005609.2:c.244-5G>C | NP_005600.1:n.244-5G>C | |
| NM_005609.3:c.244-5G>C | NP_005600.1:n.244-5G>C | |
| NM_005609.4:c.244-5G>C MANE Select | NP_005600.1:n.244-5G>C |