Linked Data
ClinVar Variation Id:
1643760
ClinVar RCV Id:
RCV002138474
dbSNP Id:
rs2116927915
gnomAD v4:
7-150947308-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947308C>A , CM000669.2:g.150947308C>A | GRCh38 |
| NC_000007.13:g.150644396C>A , CM000669.1:g.150644396C>A | GRCh37 |
| NC_000007.12:g.150275329C>A | NCBI36 |
| NG_008916.1:g.35619G>T , LRG_288:g.35619G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3985+20G>T | ||
| ENST00000262186.10:c.3152+20G>T MANE Select | ENSP00000262186.5:n.3152+20G>T | |
| ENST00000330883.9:c.2132+20G>T | ENSP00000328531.4:n.2132+20G>T | |
| ENST00000262186.9:c.3152+20G>T | ENSP00000262186.5:n.3152+20G>T | |
| ENST00000330883.8:c.2132+20G>T | ENSP00000328531.4:n.2132+20G>T | |
| NM_000238.3:c.3152+20G>T , LRG_288t1:c.3152+20G>T | NP_000229.1:n.3152+20G>T | |
| NM_172057.2:c.2132+20G>T , LRG_288t3:c.2132+20G>T | NP_742054.1:n.2132+20G>T | |
| XM_011516185.1:c.2852+20G>T | XP_011514487.1:n.2852+20G>T | |
| XM_011516185.2:c.2852+20G>T | XP_011514487.1:n.2852+20G>T | |
| XM_017012195.1:c.3002+20G>T | XP_016867684.1:n.3002+20G>T | |
| XM_017012196.1:c.2975+20G>T | XP_016867685.1:n.2975+20G>T | |
| NM_000238.4:c.3152+20G>T MANE Select | NP_000229.1:n.3152+20G>T | |
| NM_172057.3:c.2132+20G>T | NP_742054.1:n.2132+20G>T |