Linked Data
dbSNP Id:
rs371587860
ExAC:
12:58159024 C / T
gnomAD v2:
12-58159024-C-T
gnomAD v3:
12-57765241-C-T
gnomAD v4:
12-57765241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765241C>T , CM000674.2:g.57765241C>T | GRCh38 |
| NC_000012.11:g.58159024C>T , CM000674.1:g.58159024C>T | GRCh37 |
| NC_000012.10:g.56445291C>T | NCBI36 |
| NG_007076.1:g.6953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.502-30G>A | ||
| ENST00000713544.1:c.671-30G>A | ENSP00000518840.1:n.671-30G>A | |
| ENST00000713545.1:c.648-30G>A | ENSP00000518841.1:n.648-30G>A | |
| ENST00000228606.9:c.590-30G>A MANE Select | ENSP00000228606.4:n.590-30G>A | |
| ENST00000228606.8:c.590-30G>A | ENSP00000228606.4:n.590-30G>A | |
| ENST00000546567.5:c.-116-30G>A | ENSP00000449472.1:n.-116-30G>A | |
| ENST00000546609.1:c.502-30G>A | ||
| ENST00000547344.5:n.699G>A | ||
| ENST00000547451.1:n.390-30G>A | ||
| NM_000785.3:c.590-30G>A | NP_000776.1:n.590-30G>A | |
| NM_000785.4:c.590-30G>A MANE Select | NP_000776.1:n.590-30G>A |