Linked Data
dbSNP Id:
rs750380787
ExAC:
11:118014535 C / T
gnomAD v2:
11-118014535-C-T
gnomAD v4:
11-118143820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118143820C>T , CM000673.2:g.118143820C>T | GRCh38 |
| NC_000011.9:g.118014535C>T , CM000673.1:g.118014535C>T | GRCh37 |
| NC_000011.8:g.117519745C>T | NCBI36 |
| NG_011710.1:g.14096G>A , LRG_330:g.14096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.463+13G>A MANE Select | ENSP00000322460.4:n.463+13G>A | |
| ENST00000324727.8:c.463+13G>A | ENSP00000322460.4:n.463+13G>A | |
| ENST00000415030.6:n.606+13G>A | ||
| ENST00000529878.1:c.62-2484G>A | ENSP00000436343.1:n.62-2484G>A | |
| ENST00000532138.1:n.719+167G>A | ||
| NM_001142348.1:c.62-2484G>A | NP_001135820.1:n.62-2484G>A | |
| NM_001142349.1:c.133+13G>A | NP_001135821.1:n.133+13G>A | |
| NM_174934.3:c.463+13G>A , LRG_330t1:c.463+13G>A | NP_777594.1:n.463+13G>A | |
| NR_024527.1:n.488+167G>A | ||
| NM_001142348.2:c.62-2484G>A | NP_001135820.1:n.62-2484G>A | |
| NM_001142349.2:c.133+13G>A | NP_001135821.1:n.133+13G>A | |
| NR_024527.2:n.452+167G>A | ||
| NM_174934.4:c.463+13G>A MANE Select | NP_777594.1:n.463+13G>A |