Linked Data
ClinVar Variation Id:
128984
ClinVar RCV Id:
RCV001523721
dbSNP Id:
rs6750998
ExAC:
2:88882942 T / A
gnomAD v2:
2-88882942-T-A
gnomAD v3:
2-88583424-T-A
gnomAD v4:
2-88583424-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88583424T>A , CM000664.2:g.88583424T>A | GRCh38 |
| NC_000002.11:g.88882942T>A , CM000664.1:g.88882942T>A | GRCh37 |
| NC_000002.10:g.88664057T>A | NCBI36 |
| NG_016424.1:g.49153A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682276.1:n.1208+6A>T | ||
| ENST00000682892.1:c.1310+6A>T | ENSP00000507214.1:n.1310+6A>T | |
| ENST00000682952.1:n.1402+6A>T | ||
| ENST00000684455.1:c.976+6A>T | ||
| ENST00000684642.1:c.1160+6A>T | ENSP00000507355.1:n.1160+6A>T | |
| ENST00000303236.9:c.1763+6A>T MANE Select | ENSP00000307235.3:n.1763+6A>T | |
| ENST00000652099.1:c.1957+6A>T | ||
| ENST00000652736.1:n.1639+6A>T | ||
| ENST00000303236.7:c.1763+6A>T | ENSP00000307235.3:n.1763+6A>T | |
| ENST00000415570.1:c.1400+6A>T | ENSP00000412076.1:n.1400+6A>T | |
| ENST00000419748.5:c.1310+6A>T | ENSP00000408325.1:n.1310+6A>T | |
| NM_001313915.1:c.1310+6A>T | NP_001300844.1:n.1310+6A>T | |
| NM_004836.5:c.1763+6A>T | NP_004827.4:n.1763+6A>T | |
| NM_004836.6:c.1763+6A>T | NP_004827.4:n.1763+6A>T | |
| XM_005264649.3:c.1079+6A>T | XP_005264706.1:n.1079+6A>T | |
| XR_939749.1:n.1972+6A>T | ||
| XM_017005376.2:c.1079+6A>T | XP_016860865.1:n.1079+6A>T | |
| NM_004836.7:c.1763+6A>T MANE Select | NP_004827.4:n.1763+6A>T | |
| NM_001313915.2:c.1310+6A>T | NP_001300844.1:n.1310+6A>T |