Linked Data
ClinVar Variation Id:
2924483
ClinVar RCV Id:
RCV003786233
dbSNP Id:
rs758284944
ExAC:
1:68896948 T / A
gnomAD v2:
1-68896948-T-A
gnomAD v3:
1-68431265-T-A
gnomAD v4:
1-68431265-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431265T>A , CM000663.2:g.68431265T>A | GRCh38 |
| NC_000001.10:g.68896948T>A , CM000663.1:g.68896948T>A | GRCh37 |
| NC_000001.9:g.68669536T>A | NCBI36 |
| NG_008472.1:g.23695A>T | |
| NG_008472.2:g.23695A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338+17A>T MANE Select | ENSP00000262340.5:n.1338+17A>T | |
| ENST00000262340.5:c.1338+17A>T | ENSP00000262340.5:n.1338+17A>T | |
| NM_000329.2:c.1338+17A>T | NP_000320.1:n.1338+17A>T | |
| XM_017002027.1:c.1062+17A>T | XP_016857516.1:n.1062+17A>T | |
| NM_000329.3:c.1338+17A>T MANE Select | NP_000320.1:n.1338+17A>T |