Linked Data
dbSNP Id:
rs1334970209
gnomAD v2:
22-25144806-G-A
gnomAD v3:
22-24748839-G-A
gnomAD v4:
22-24748839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24748839G>A , CM000684.2:g.24748839G>A | GRCh38 |
| NC_000022.10:g.25144806G>A , CM000684.1:g.25144806G>A | GRCh37 |
| NC_000022.9:g.23474806G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527701.6:c.*1421+68C>T | ENSP00000435718.2:n.*1421+68C>T | |
| ENST00000533313.6:c.*1375+68C>T | ENSP00000431843.2:n.*1375+68C>T | |
| ENST00000616349.5:c.1449+68C>T MANE Select | ENSP00000479524.2:n.1449+68C>T | |
| ENST00000332271.9:c.1449+68C>T | ENSP00000330031.5:n.1449+68C>T | |
| ENST00000527701.5:c.1122+68C>T | ENSP00000435718.1:n.1122+68C>T | |
| ENST00000532537.2:n.1870+68C>T | ||
| ENST00000533313.5:c.1122+68C>T | ENSP00000431843.1:n.1122+68C>T | |
| ENST00000616349.4:c.1449+68C>T | ENSP00000479524.1:n.1449+68C>T | |
| NM_001008496.3:c.1449+68C>T | NP_001008496.2:n.1449+68C>T | |
| NM_001255975.1:c.1449+68C>T MANE Select | NP_001242904.1:n.1449+68C>T | |
| NR_045648.1:n.2080+68C>T | ||
| NR_045649.1:n.1953+68C>T | ||
| NR_045649.2:n.1953+68C>T |