Linked Data
dbSNP Id:
rs8014194
gnomAD v2:
14-95720678-T-A
gnomAD v3:
14-95254341-T-A
gnomAD v4:
14-95254341-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95254341T>A , CM000676.2:g.95254341T>A | GRCh38 |
| NC_000014.8:g.95720678T>A , CM000676.1:g.95720678T>A | GRCh37 |
| NC_000014.7:g.94790431T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298912.9:c.83-24208A>T MANE Select | ENSP00000298912.3:n.83-24208A>T | |
| ENST00000298912.8:c.83-24208A>T | ENSP00000298912.3:n.83-24208A>T | |
| ENST00000553733.1:c.83-24208A>T | ENSP00000451189.1:n.83-24208A>T | |
| ENST00000555336.6:c.-123+6174A>T | ENSP00000451705.1:n.-123+6174A>T | |
| ENST00000555615.1:c.-122-24208A>T | ENSP00000452525.1:n.-122-24208A>T | |
| NM_024734.3:c.83-24208A>T | NP_079010.2:n.83-24208A>T | |
| XM_011537158.1:c.83-24208A>T | XP_011535460.1:n.83-24208A>T | |
| XM_011537159.1:c.83-24208A>T | XP_011535461.1:n.83-24208A>T | |
| XR_245721.2:n.195-24208A>T | ||
| XR_429330.2:n.195-24208A>T | ||
| XR_429332.2:n.195-24208A>T | ||
| XM_011537159.2:c.83-24208A>T | XP_011535461.1:n.83-24208A>T | |
| XM_017021646.1:c.23-24208A>T | XP_016877135.1:n.23-24208A>T | |
| XM_017021647.1:c.83-24208A>T | XP_016877136.1:n.83-24208A>T | |
| XR_001750558.1:n.195-24208A>T | ||
| NM_024734.4:c.83-24208A>T MANE Select | NP_079010.2:n.83-24208A>T |