Linked Data
dbSNP Id:
rs561088237
gnomAD v4:
16-88810357-G-A
MyVariant Identifiers:
chr16:g.88810357G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810357G>A , CM000678.2:g.88810357G>A | GRCh38 |
| NC_000016.9:g.88876765G>A , CM000678.1:g.88876765G>A | GRCh37 |
| NC_000016.8:g.87404266G>A | NCBI36 |
| NG_008013.1:g.6578C>T | |
| NG_028266.1:g.11580G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378364.8:c.321+66C>T MANE Select | ENSP00000367615.3:n.321+66C>T | |
| ENST00000378364.7:c.321+66C>T | ENSP00000367615.3:n.321+66C>T | |
| ENST00000426324.6:c.321+66C>T | ENSP00000397007.2:n.321+66C>T | |
| ENST00000562464.1:n.332-209C>T | ||
| ENST00000563655.5:c.241-209C>T | ENSP00000456012.1:n.241-209C>T | |
| ENST00000567391.5:c.188-209C>T | ENSP00000457964.1:n.188-209C>T | |
| ENST00000567713.5:c.321+66C>T | ENSP00000455749.1:n.321+66C>T | |
| ENST00000568319.5:c.188-209C>T | ENSP00000456905.1:n.188-209C>T | |
| ENST00000568575.1:n.42C>T | ||
| ENST00000569616.1:c.319+66C>T | ||
| NM_000485.2:c.321+66C>T | NP_000476.1:n.321+66C>T | |
| NM_001030018.1:c.321+66C>T | NP_001025189.1:n.321+66C>T | |
| NM_000485.3:c.321+66C>T MANE Select | NP_000476.1:n.321+66C>T | |
| NM_001030018.2:c.321+66C>T | NP_001025189.1:n.321+66C>T |