Linked Data
ClinVar Variation Id:
364041
ClinVar RCV Id:
RCV000341628
dbSNP Id:
rs367847329
ExAC:
8:97156763 C / T
gnomAD v2:
8-97156763-C-T
gnomAD v3:
8-96144535-C-T
gnomAD v4:
8-96144535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144535C>T , CM000670.2:g.96144535C>T | GRCh38 |
| NC_000008.10:g.97156763C>T , CM000670.1:g.97156763C>T | GRCh37 |
| NC_000008.9:g.97225939C>T | NCBI36 |
| NG_008981.1:g.21258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.*28G>A MANE Select | ENSP00000287020.4:n.*28G>A | |
| ENST00000287020.6:c.*28G>A | ENSP00000287020.4:n.*28G>A | |
| ENST00000620978.1:c.*120G>A | ENSP00000480170.1:n.*120G>A | |
| ENST00000621429.1:c.*83G>A | ENSP00000483711.1:n.*83G>A | |
| NM_001001557.2:c.*28G>A | NP_001001557.1:n.*28G>A | |
| XM_011517030.1:c.*28G>A | XP_011515332.1:n.*28G>A | |
| NM_001001557.3:c.*28G>A | NP_001001557.1:n.*28G>A | |
| NM_001001557.4:c.*28G>A MANE Select | NP_001001557.1:n.*28G>A |