Linked Data
ClinVar Variation Id:
518866
dbSNP Id:
rs751139039
ExAC:
11:118014545 T / A
gnomAD v2:
11-118014545-T-A
gnomAD v3:
11-118143830-T-A
gnomAD v4:
11-118143830-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118143830T>A , CM000673.2:g.118143830T>A | GRCh38 |
| NC_000011.9:g.118014545T>A , CM000673.1:g.118014545T>A | GRCh37 |
| NC_000011.8:g.117519755T>A | NCBI36 |
| NG_011710.1:g.14086A>T , LRG_330:g.14086A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.463+3A>T MANE Select | ENSP00000322460.4:n.463+3A>T | |
| ENST00000324727.8:c.463+3A>T | ENSP00000322460.4:n.463+3A>T | |
| ENST00000415030.6:n.606+3A>T | ||
| ENST00000529878.1:c.62-2494A>T | ENSP00000436343.1:n.62-2494A>T | |
| ENST00000532138.1:n.719+157A>T | ||
| NM_001142348.1:c.62-2494A>T | NP_001135820.1:n.62-2494A>T | |
| NM_001142349.1:c.133+3A>T | NP_001135821.1:n.133+3A>T | |
| NM_174934.3:c.463+3A>T , LRG_330t1:c.463+3A>T | NP_777594.1:n.463+3A>T | |
| NR_024527.1:n.488+157A>T | ||
| NM_001142348.2:c.62-2494A>T | NP_001135820.1:n.62-2494A>T | |
| NM_001142349.2:c.133+3A>T | NP_001135821.1:n.133+3A>T | |
| NR_024527.2:n.452+157A>T | ||
| NM_174934.4:c.463+3A>T MANE Select | NP_777594.1:n.463+3A>T |