Linked Data
dbSNP Id:
rs16999051
gnomAD v2:
20-17361482-C-T
gnomAD v3:
20-17380837-C-T
gnomAD v4:
20-17380837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17380837C>T , CM000682.2:g.17380837C>T | GRCh38 |
| NC_000020.10:g.17361482C>T , CM000682.1:g.17361482C>T | GRCh37 |
| NC_000020.9:g.17309482C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262545.7:c.543+11560C>T MANE Select | ENSP00000262545.2:n.543+11560C>T | |
| ENST00000262545.6:c.543+11560C>T | ENSP00000262545.2:n.543+11560C>T | |
| ENST00000377899.5:c.486+11560C>T | ENSP00000367131.1:n.486+11560C>T | |
| ENST00000470007.1:n.538+11560C>T | ||
| ENST00000536609.1:c.438+11560C>T | ENSP00000437458.1:n.438+11560C>T | |
| NM_001201528.1:c.486+11560C>T | NP_001188457.1:n.486+11560C>T | |
| NM_001201529.2:c.438+11560C>T | NP_001188458.1:n.438+11560C>T | |
| NM_002594.4:c.543+11560C>T | NP_002585.2:n.543+11560C>T | |
| NM_002594.5:c.543+11560C>T MANE Select | NP_002585.2:n.543+11560C>T | |
| NM_001201529.3:c.438+11560C>T | NP_001188458.1:n.438+11560C>T | |
| NM_001201528.2:c.486+11560C>T | NP_001188457.1:n.486+11560C>T |