Linked Data
dbSNP Id:
rs1457588021
gnomAD v2:
16-88876053-G-A
gnomAD v3:
16-88809645-G-A
gnomAD v4:
16-88809645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809645G>A , CM000678.2:g.88809645G>A | GRCh38 |
| NC_000016.9:g.88876053G>A , CM000678.1:g.88876053G>A | GRCh37 |
| NC_000016.8:g.87403554G>A | NCBI36 |
| NG_008013.1:g.7290C>T | |
| NG_028266.1:g.10868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.*53C>T MANE Select | ENSP00000367615.3:n.*53C>T | |
| ENST00000378364.7:c.*53C>T | ENSP00000367615.3:n.*53C>T | |
| ENST00000426324.6:c.*57C>T | ENSP00000397007.2:n.*57C>T | |
| ENST00000563655.5:c.*53C>T | ENSP00000456012.1:n.*53C>T | |
| ENST00000567057.5:n.261C>T | ||
| ENST00000567391.5:c.*270C>T | ENSP00000457964.1:n.*270C>T | |
| ENST00000567713.5:c.322-110C>T | ENSP00000455749.1:n.322-110C>T | |
| ENST00000568319.5:c.*136C>T | ENSP00000456905.1:n.*136C>T | |
| ENST00000569616.1:c.661C>T | ||
| NM_000485.2:c.*53C>T | NP_000476.1:n.*53C>T | |
| NM_001030018.1:c.*57C>T | NP_001025189.1:n.*57C>T | |
| NM_000485.3:c.*53C>T MANE Select | NP_000476.1:n.*53C>T | |
| NM_001030018.2:c.*57C>T | NP_001025189.1:n.*57C>T |