Linked Data
dbSNP Id:
rs756500140
ExAC:
12:65122716 A / T
gnomAD v2:
12-65122716-A-T
gnomAD v3:
12-64728936-A-T
gnomAD v4:
12-64728936-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64728936A>T , CM000674.2:g.64728936A>T | GRCh38 |
| NC_000012.11:g.65122716A>T , CM000674.1:g.65122716A>T | GRCh37 |
| NC_000012.10:g.63408983A>T | NCBI36 |
| NG_008955.1:g.35511T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258145.8:c.1200+20T>A MANE Select | ENSP00000258145.3:n.1200+20T>A | |
| ENST00000258145.7:c.1200+20T>A | ENSP00000258145.3:n.1200+20T>A | |
| ENST00000418919.6:c.1032+20T>A | ENSP00000413130.2:n.1032+20T>A | |
| ENST00000537823.1:n.199+20T>A | ||
| ENST00000540196.5:c.557-5823T>A | ||
| ENST00000540883.1:n.263+20T>A | ||
| ENST00000541781.5:n.1255+20T>A | ||
| ENST00000542058.5:c.1140+20T>A | ENSP00000444819.1:n.1140+20T>A | |
| ENST00000543646.5:c.1296+20T>A | ENSP00000438497.1:n.1296+20T>A | |
| NM_002076.3:c.1200+20T>A | NP_002067.1:n.1200+20T>A | |
| NM_002076.4:c.1200+20T>A MANE Select | NP_002067.1:n.1200+20T>A |