Linked Data
dbSNP Id:
rs768550110
ExAC:
16:14041465 C / T
gnomAD v2:
16-14041465-C-T
gnomAD v4:
16-13947608-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947608C>T , CM000678.2:g.13947608C>T | GRCh38 |
| NC_000016.9:g.14041465C>T , CM000678.1:g.14041465C>T | GRCh37 |
| NC_000016.8:g.13948966C>T | NCBI36 |
| NG_011442.1:g.32452C>T , LRG_463:g.32452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2156-6C>T | ENSP00000507912.1:n.2156-6C>T | |
| ENST00000683962.1:c.*1712-6C>T | ENSP00000506854.1:n.*1712-6C>T | |
| ENST00000311895.8:c.2018-6C>T MANE Select | ENSP00000310520.7:n.2018-6C>T | |
| ENST00000311895.7:c.2018-6C>T | ENSP00000310520.7:n.2018-6C>T | |
| ENST00000389138.7:n.1295-6C>T | ||
| ENST00000462862.1:c.331-6C>T | ENSP00000461322.1:n.331-6C>T | |
| NM_005236.2:c.2018-6C>T , LRG_463t1:c.2018-6C>T | NP_005227.1:n.2018-6C>T | |
| XM_011522424.1:c.2156-6C>T | XP_011520726.1:n.2156-6C>T | |
| XM_011522425.1:c.1475-6C>T | XP_011520727.1:n.1475-6C>T | |
| XM_011522426.1:c.1229-6C>T | XP_011520728.1:n.1229-6C>T | |
| XM_011522427.1:c.668-6C>T | XP_011520729.1:n.668-6C>T | |
| XR_932805.1:n.2177-6C>T | ||
| XM_011522424.3:c.2156-6C>T | XP_011520726.1:n.2156-6C>T | |
| XM_017023043.2:c.1229-6C>T | XP_016878532.1:n.1229-6C>T | |
| NM_005236.3:c.2018-6C>T MANE Select | NP_005227.1:n.2018-6C>T |