Linked Data
dbSNP Id:
rs1320852642
gnomAD v2:
12-129186257-G-A
gnomAD v3:
12-128701712-G-A
gnomAD v4:
12-128701712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128701712G>A , CM000674.2:g.128701712G>A | GRCh38 |
| NC_000012.11:g.129186257G>A , CM000674.1:g.129186257G>A | GRCh37 |
| NC_000012.10:g.127752210G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435159.3:c.2122-3378G>A MANE Select | ENSP00000410852.2:n.2122-3378G>A | |
| ENST00000435159.2:c.2122-3378G>A | ENSP00000410852.2:n.2122-3378G>A | |
| NM_001136103.2:c.2122-3378G>A | NP_001129575.2:n.2122-3378G>A | |
| XM_011538998.1:c.2062-3378G>A | XP_011537300.1:n.2062-3378G>A | |
| XM_011538998.2:c.2062-3378G>A | XP_011537300.1:n.2062-3378G>A | |
| XR_001748922.1:n.2355-2940G>A | ||
| NM_001136103.3:c.2122-3378G>A MANE Select | NP_001129575.2:n.2122-3378G>A | |
| NM_001387058.1:c.2062-3378G>A | NP_001373987.1:n.2062-3378G>A |