Linked Data
dbSNP Id:
rs117912866
gnomAD v2:
6-167526097-G-T
gnomAD v3:
6-167112609-G-T
gnomAD v4:
6-167112609-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167112609G>T , CM000668.2:g.167112609G>T | GRCh38 |
| NC_000006.11:g.167526097G>T , CM000668.1:g.167526097G>T | GRCh37 |
| NC_000006.10:g.167446087G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609590.2:n.2170-22325G>T | ||
| ENST00000705249.1:c.1066-23429G>T | ENSP00000516101.1:n.1066-23429G>T | |
| ENST00000705250.1:c.844-23429G>T | ENSP00000516102.1:n.844-23429G>T | |
| ENST00000705251.1:c.*713-23429G>T | ENSP00000516103.1:n.*713-23429G>T | |
| ENST00000705252.1:c.*536-23429G>T | ENSP00000516104.1:n.*536-23429G>T | |
| ENST00000705253.1:c.*536-23429G>T | ENSP00000516105.1:n.*536-23429G>T | |
| ENST00000705254.1:c.673-23429G>T | ENSP00000516106.1:n.673-23429G>T | |
| ENST00000705255.1:n.1692-23429G>T | ||
| ENST00000400926.5:c.-98+595G>T | ENSP00000383715.2:n.-98+595G>T | |
| NM_004367.5:c.-98+595G>T | NP_004358.2:n.-98+595G>T | |
| XR_943250.1:n.7888C>A | ||
| XR_943251.1:n.7307C>A | ||
| XR_001744467.2:n.5823C>A | ||
| XR_001744469.2:n.5753C>A | ||
| XR_943250.3:n.7655C>A | ||
| XR_943251.3:n.7315C>A | ||
| NM_004367.6:c.-98+595G>T | NP_004358.2:n.-98+595G>T |