Linked Data
ClinVar Variation Id:
1909253
ClinVar RCV Id:
RCV002600174
dbSNP Id:
rs760667989
ExAC:
7:143028002 G / T
gnomAD v2:
7-143028002-G-T
gnomAD v3:
7-143330909-G-T
gnomAD v4:
7-143330909-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330909G>T , CM000669.2:g.143330909G>T | GRCh38 |
| NC_000007.13:g.143028002G>T , CM000669.1:g.143028002G>T | GRCh37 |
| NC_000007.12:g.142738124G>T | NCBI36 |
| NG_009815.1:g.19784G>T | |
| NG_009815.2:g.19784G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.979+12G>T | ENSP00000498052.2:n.979+12G>T | |
| ENST00000343257.7:c.979+12G>T MANE Select | ENSP00000339867.2:n.979+12G>T | |
| ENST00000432192.6:c.803+12G>T | ||
| ENST00000343257.6:c.979+12G>T | ENSP00000339867.2:n.979+12G>T | |
| NM_000083.2:c.979+12G>T | NP_000074.2:n.979+12G>T | |
| NR_046453.1:n.1069+12G>T | ||
| XM_011515781.1:c.979+12G>T | XP_011514083.1:n.979+12G>T | |
| XM_017011739.1:c.529+12G>T | XP_016867228.1:n.529+12G>T | |
| XM_017011740.1:c.529+12G>T | XP_016867229.1:n.529+12G>T | |
| NM_000083.3:c.979+12G>T MANE Select | NP_000074.3:n.979+12G>T | |
| NR_046453.2:n.1084+12G>T |