Linked Data
dbSNP Id:
rs750450741
ExAC:
12:58159740 G / T
gnomAD v2:
12-58159740-G-T
gnomAD v4:
12-57765957-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765957G>T , CM000674.2:g.57765957G>T | GRCh38 |
| NC_000012.11:g.58159740G>T , CM000674.1:g.58159740G>T | GRCh37 |
| NC_000012.10:g.56446007G>T | NCBI36 |
| NG_007076.1:g.6237C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.298+50C>A | ||
| ENST00000713544.1:c.386+50C>A | ENSP00000518840.1:n.386+50C>A | |
| ENST00000713545.1:c.386+50C>A | ENSP00000518841.1:n.386+50C>A | |
| ENST00000228606.9:c.386+50C>A MANE Select | ENSP00000228606.4:n.386+50C>A | |
| ENST00000228606.8:c.386+50C>A | ENSP00000228606.4:n.386+50C>A | |
| ENST00000546496.1:n.214+50C>A | ||
| ENST00000546609.1:c.298+50C>A | ||
| ENST00000547344.5:n.440+50C>A | ||
| ENST00000552186.1:n.505+50C>A | ||
| NM_000785.3:c.386+50C>A | NP_000776.1:n.386+50C>A | |
| NM_000785.4:c.386+50C>A MANE Select | NP_000776.1:n.386+50C>A |