Linked Data
dbSNP Id:
rs945506998
gnomAD v2:
16-8941523-C-T
gnomAD v3:
16-8847666-C-T
gnomAD v4:
16-8847666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847666C>T , CM000678.2:g.8847666C>T | GRCh38 |
| NC_000016.9:g.8941523C>T , CM000678.1:g.8941523C>T | GRCh37 |
| NC_000016.8:g.8849024C>T | NCBI36 |
| NG_009209.1:g.54854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3808-58C>T | ||
| ENST00000682393.1:c.*258-1703C>T | ENSP00000506774.1:n.*258-1703C>T | |
| ENST00000683094.1:c.*262-1703C>T | ENSP00000508230.1:n.*262-1703C>T | |
| ENST00000683274.1:c.*180-1703C>T | ENSP00000507262.1:n.*180-1703C>T | |
| ENST00000683435.1:c.*536-58C>T | ENSP00000508092.1:n.*536-58C>T | |
| ENST00000268261.9:c.640-58C>T MANE Select | ENSP00000268261.4:n.640-58C>T | |
| ENST00000268261.8:c.640-58C>T | ENSP00000268261.4:n.640-58C>T | |
| ENST00000562025.1:n.174-58C>T | ||
| ENST00000562318.5:c.*362-58C>T | ENSP00000454395.1:n.*362-58C>T | |
| ENST00000565221.5:c.*258-58C>T | ENSP00000457932.1:n.*258-58C>T | |
| ENST00000566540.5:c.*262-58C>T | ENSP00000454284.1:n.*262-58C>T | |
| ENST00000566604.5:c.*180-58C>T | ENSP00000456774.1:n.*180-58C>T | |
| ENST00000566983.5:c.559-58C>T | ENSP00000457956.1:n.559-58C>T | |
| ENST00000567697.1:n.3808-58C>T | ||
| ENST00000569958.5:c.367-58C>T | ENSP00000456302.1:n.367-58C>T | |
| ENST00000570076.5:c.*98-58C>T | ENSP00000456961.1:n.*98-58C>T | |
| NM_000303.2:c.640-58C>T | NP_000294.1:n.640-58C>T | |
| XM_005255374.3:c.391-58C>T | XP_005255431.1:n.391-58C>T | |
| XM_011522538.1:c.640-7368C>T | XP_011520840.1:n.640-7368C>T | |
| XM_005255374.4:c.391-58C>T | XP_005255431.1:n.391-58C>T | |
| NM_000303.3:c.640-58C>T MANE Select | NP_000294.1:n.640-58C>T |