Linked Data
ClinVar Variation Id:
910677
ClinVar RCV Id:
RCV001162632
dbSNP Id:
rs113099906
gnomAD v2:
6-97338861-A-G
gnomAD v3:
6-96890985-A-G
gnomAD v4:
6-96890985-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96890985A>G , CM000668.2:g.96890985A>G | GRCh38 |
| NC_000006.11:g.97338861A>G , CM000668.1:g.97338861A>G | GRCh37 |
| NC_000006.10:g.97445582A>G | NCBI36 |
| NG_013379.1:g.11907T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.*119T>C MANE Select | ENSP00000358272.4:n.*119T>C | |
| ENST00000316149.7:c.*119T>C | ENSP00000358272.4:n.*119T>C | |
| NM_014165.3:c.*119T>C | NP_054884.1:n.*119T>C | |
| NM_014165.4:c.*119T>C MANE Select | NP_054884.1:n.*119T>C |