Linked Data
dbSNP Id:
rs1042060478
gnomAD v2:
12-58159025-G-A
gnomAD v3:
12-57765242-G-A
gnomAD v4:
12-57765242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765242G>A , CM000674.2:g.57765242G>A | GRCh38 |
| NC_000012.11:g.58159025G>A , CM000674.1:g.58159025G>A | GRCh37 |
| NC_000012.10:g.56445292G>A | NCBI36 |
| NG_007076.1:g.6952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.502-31C>T | ||
| ENST00000713544.1:c.671-31C>T | ENSP00000518840.1:n.671-31C>T | |
| ENST00000713545.1:c.648-31C>T | ENSP00000518841.1:n.648-31C>T | |
| ENST00000228606.9:c.590-31C>T MANE Select | ENSP00000228606.4:n.590-31C>T | |
| ENST00000228606.8:c.590-31C>T | ENSP00000228606.4:n.590-31C>T | |
| ENST00000546567.5:c.-116-31C>T | ENSP00000449472.1:n.-116-31C>T | |
| ENST00000546609.1:c.502-31C>T | ||
| ENST00000547344.5:n.698C>T | ||
| ENST00000547451.1:n.390-31C>T | ||
| NM_000785.3:c.590-31C>T | NP_000776.1:n.590-31C>T | |
| NM_000785.4:c.590-31C>T MANE Select | NP_000776.1:n.590-31C>T |