Linked Data
ClinVar Variation Id:
136991
dbSNP Id:
rs115677652
ExAC:
16:57494029 C / T
gnomAD v2:
16-57494029-C-T
gnomAD v3:
16-57460117-C-T
gnomAD v4:
16-57460117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57460117C>T , CM000678.2:g.57460117C>T | GRCh38 |
| NC_000016.9:g.57494029C>T , CM000678.1:g.57494029C>T | GRCh37 |
| NC_000016.8:g.56051530C>T | NCBI36 |
| NG_027696.1:g.17693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.921+13C>T MANE Select | ENSP00000262507.5:n.921+13C>T | |
| ENST00000262507.10:c.921+13C>T | ENSP00000262507.5:n.921+13C>T | |
| ENST00000563166.1:c.304-1055C>T | ENSP00000455495.1:n.304-1055C>T | |
| ENST00000567072.5:c.816+13C>T | ENSP00000456728.1:n.816+13C>T | |
| ENST00000567933.5:c.588+13C>T | ENSP00000456174.1:n.588+13C>T | |
| ENST00000569980.1:n.436+13C>T | ||
| NM_020312.3:c.921+13C>T | NP_064708.1:n.921+13C>T | |
| NM_020312.4:c.921+13C>T MANE Select | NP_064708.1:n.921+13C>T |