Linked Data
ClinVar Variation Id:
2801629
ClinVar RCV Id:
RCV003598878
dbSNP Id:
rs1592979038
gnomAD v4:
12-102894936-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894936G>T , CM000674.2:g.102894936G>T | GRCh38 |
| NC_000012.11:g.103288714G>T , CM000674.1:g.103288714G>T | GRCh37 |
| NC_000012.10:g.101812844G>T | NCBI36 |
| NG_008690.1:g.27667C>A | |
| NG_008690.2:g.68475C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.169-18C>A MANE Select | ENSP00000448059.1:n.169-18C>A | |
| ENST00000307000.7:c.154-18C>A | ENSP00000303500.2:n.154-18C>A | |
| ENST00000546844.1:c.169-18C>A | ENSP00000446658.1:n.169-18C>A | |
| ENST00000548677.2:n.256-18C>A | ||
| ENST00000548928.1:n.91-18C>A | ||
| ENST00000549111.5:n.265-18C>A | ||
| ENST00000550978.6:c.153-18C>A | ||
| ENST00000551337.5:c.169-18C>A | ENSP00000447620.1:n.169-18C>A | |
| ENST00000551988.5:n.258-18C>A | ||
| ENST00000553106.5:c.169-18C>A | ENSP00000448059.1:n.169-18C>A | |
| ENST00000635500.1:n.137-18C>A | ||
| NM_000277.1:c.169-18C>A | NP_000268.1:n.169-18C>A | |
| XM_011538422.1:c.169-18C>A | XP_011536724.1:n.169-18C>A | |
| NM_000277.2:c.169-18C>A | NP_000268.1:n.169-18C>A | |
| NM_001354304.1:c.169-18C>A | NP_001341233.1:n.169-18C>A | |
| XM_017019370.2:c.169-18C>A | XP_016874859.1:n.169-18C>A | |
| NM_000277.3:c.169-18C>A MANE Select | NP_000268.1:n.169-18C>A | |
| NM_001354304.2:c.169-18C>A | NP_001341233.1:n.169-18C>A |