Linked Data
ClinVar Variation Id:
90485
ClinVar RCV Id:
RCV001519741
dbSNP Id:
rs2303425
gnomAD v2:
2-47630213-T-C
gnomAD v3:
2-47403074-T-C
gnomAD v4:
2-47403074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403074T>C , CM000664.2:g.47403074T>C | GRCh38 |
| NC_000002.11:g.47630213T>C , CM000664.1:g.47630213T>C | GRCh37 |
| NC_000002.10:g.47483717T>C | NCBI36 |
| NG_007110.2:g.4951T>C , LRG_218:g.4951T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000543555.6:c.-132T>C | ENSP00000442697.1:n.-132T>C | |
| ENST00000233146.6:c.-118T>C | ENSP00000233146.2:n.-118T>C | |
| ENST00000454849.5:c.-132T>C | ENSP00000411482.1:n.-132T>C | |
| ENST00000543555.5:c.-132T>C | ENSP00000442697.1:n.-132T>C | |
| NM_000251.2:c.-118T>C , LRG_218t1:c.-118T>C | NP_000242.1:n.-118T>C | |
| NM_001258281.1:c.-132T>C | NP_001245210.1:n.-132T>C |