Linked Data
ClinVar Variation Id:
30657
dbSNP Id:
rs786200927
gnomAD v4:
6-168441455-G-T
PubMed:
PMID:22152679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168441455G>T , CM000668.2:g.168441455G>T | GRCh38 |
| NC_000006.11:g.168842135G>T , CM000668.1:g.168842135G>T | GRCh37 |
| NC_000006.10:g.168584984G>T | NCBI36 |
| NG_032781.1:g.5305G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356284.7:c.84+1G>T MANE Select | ENSP00000348630.3:n.84+1G>T | |
| ENST00000354536.9:c.84+1G>T | ENSP00000346537.5:n.84+1G>T | |
| ENST00000356284.6:c.84+1G>T | ENSP00000348630.2:n.84+1G>T | |
| NM_001166412.1:c.84+1G>T | NP_001159884.1:n.84+1G>T | |
| NM_022138.2:c.84+1G>T | NP_071421.1:n.84+1G>T | |
| XM_011536065.1:c.84+1G>T | XP_011534367.1:n.84+1G>T | |
| XM_011536066.1:c.84+1G>T | XP_011534368.1:n.84+1G>T | |
| NM_001166412.2:c.84+1G>T MANE Select | NP_001159884.1:n.84+1G>T | |
| NM_022138.3:c.84+1G>T | NP_071421.1:n.84+1G>T |