Linked Data
ClinVar Variation Id:
801616
dbSNP Id:
rs759433119
ExAC:
1:216419926 C / T
gnomAD v2:
1-216419926-C-T
gnomAD v3:
1-216246584-C-T
gnomAD v4:
1-216246584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246584C>T , CM000663.2:g.216246584C>T | GRCh38 |
| NC_000001.10:g.216419926C>T , CM000663.1:g.216419926C>T | GRCh37 |
| NC_000001.9:g.214486549C>T | NCBI36 |
| NG_009497.1:g.181813G>A | |
| NG_009497.2:g.181865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2809+1G>A MANE Select | ENSP00000305941.3:n.2809+1G>A | |
| ENST00000674083.1:c.2809+1G>A | ENSP00000501296.1:n.2809+1G>A | |
| ENST00000307340.7:c.2809+1G>A | ENSP00000305941.3:n.2809+1G>A | |
| ENST00000366942.3:c.2809+1G>A | ENSP00000355909.3:n.2809+1G>A | |
| NM_007123.5:c.2809+1G>A | NP_009054.5:n.2809+1G>A | |
| NM_206933.2:c.2809+1G>A | NP_996816.2:n.2809+1G>A | |
| NM_206933.3:c.2809+1G>A | NP_996816.2:n.2809+1G>A | |
| NM_007123.6:c.2809+1G>A | NP_009054.6:n.2809+1G>A | |
| NM_206933.4:c.2809+1G>A MANE Select | NP_996816.3:n.2809+1G>A |