Linked Data
ClinVar Variation Id:
297321
ClinVar RCV Id:
RCV000346559
dbSNP Id:
rs149256970
gnomAD v2:
1-43199329-T-C
gnomAD v3:
1-42733658-T-C
gnomAD v4:
1-42733658-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42733658T>C , CM000663.2:g.42733658T>C | GRCh38 |
| NC_000001.10:g.43199329T>C , CM000663.1:g.43199329T>C | GRCh37 |
| NC_000001.9:g.42971916T>C | NCBI36 |
| NG_008993.1:g.11597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*1428A>G MANE Select | ENSP00000296387.1:n.*1428A>G | |
| ENST00000296387.5:c.*1428A>G | ENSP00000296387.1:n.*1428A>G | |
| ENST00000539749.5:c.*2104A>G | ENSP00000443229.1:n.*2104A>G | |
| NM_001123395.1:c.*2210A>G | NP_001116867.1:n.*2210A>G | |
| NM_001185117.1:c.*2104A>G | NP_001172046.1:n.*2104A>G | |
| NM_148960.2:c.*1428A>G | NP_683763.2:n.*1428A>G | |
| NM_001123395.2:c.*2210A>G | NP_001116867.1:n.*2210A>G | |
| NM_148960.3:c.*1428A>G MANE Select | NP_683763.2:n.*1428A>G | |
| NM_001185117.2:c.*2104A>G | NP_001172046.1:n.*2104A>G |