Linked Data
ClinVar Variation Id:
2726930
ClinVar RCV Id:
RCV003557030
dbSNP Id:
rs1467545241
gnomAD v3:
10-102835396-T-A
gnomAD v4:
10-102835396-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835396T>A , CM000672.2:g.102835396T>A | GRCh38 |
| NC_000010.10:g.104595153T>A , CM000672.1:g.104595153T>A | GRCh37 |
| NC_000010.9:g.104585143T>A | NCBI36 |
| NG_007955.1:g.7138A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.298-4A>T MANE Select | ENSP00000358903.3:n.298-4A>T | |
| ENST00000638190.1:c.298-4A>T | ENSP00000492539.1:n.298-4A>T | |
| ENST00000638272.1:c.297+1669A>T | ENSP00000491508.1:n.297+1669A>T | |
| ENST00000638971.1:c.298-4A>T | ENSP00000492313.1:n.298-4A>T | |
| ENST00000639393.1:c.298-4A>T | ENSP00000492651.1:n.298-4A>T | |
| ENST00000640633.1:n.60-4A>T | ||
| ENST00000369887.3:c.298-4A>T | ENSP00000358903.3:n.298-4A>T | |
| ENST00000489268.1:n.548A>T | ||
| NM_000102.3:c.298-4A>T | NP_000093.1:n.298-4A>T | |
| NM_000102.4:c.298-4A>T MANE Select | NP_000093.1:n.298-4A>T |