Linked Data
ClinVar Variation Id:
364029
ClinVar RCV Id:
RCV000308954
dbSNP Id:
rs886063202
gnomAD v4:
8-96144283-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144283A>G , CM000670.2:g.96144283A>G | GRCh38 |
| NC_000008.10:g.97156511A>G , CM000670.1:g.97156511A>G | GRCh37 |
| NC_000008.9:g.97225687A>G | NCBI36 |
| NG_008981.1:g.21510T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.*280T>C MANE Select | ENSP00000287020.4:n.*280T>C | |
| ENST00000287020.6:c.*280T>C | ENSP00000287020.4:n.*280T>C | |
| NM_001001557.2:c.*280T>C | NP_001001557.1:n.*280T>C | |
| XM_011517030.1:c.*280T>C | XP_011515332.1:n.*280T>C | |
| NM_001001557.3:c.*280T>C | NP_001001557.1:n.*280T>C | |
| NM_001001557.4:c.*280T>C MANE Select | NP_001001557.1:n.*280T>C |