Linked Data
dbSNP Id:
rs781525376
ExAC:
4:100870810 A / T
gnomAD v2:
4-100870810-A-T
gnomAD v4:
4-99949653-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949653A>T , CM000666.2:g.99949653A>T | GRCh38 |
| NC_000004.11:g.100870810A>T , CM000666.1:g.100870810A>T | GRCh37 |
| NC_000004.10:g.101089833A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.81+10T>A MANE Select | ENSP00000296417.5:n.81+10T>A | |
| ENST00000651623.1:c.81+10T>A | ENSP00000498935.1:n.81+10T>A | |
| ENST00000296417.5:c.81+10T>A | ENSP00000296417.5:n.81+10T>A | |
| ENST00000511203.1:n.647T>A | ||
| ENST00000511319.5:n.606+10T>A | ||
| ENST00000511348.1:n.276T>A | ||
| ENST00000527366.1:n.165+10T>A | ||
| ENST00000529158.5:n.130+10T>A | ||
| NM_002106.3:c.81+10T>A | NP_002097.1:n.81+10T>A | |
| NM_002106.4:c.81+10T>A MANE Select | NP_002097.1:n.81+10T>A |