Linked Data
ClinVar Variation Id:
222673
ClinVar RCV Id:
RCV000208265
dbSNP Id:
rs200032281
ExAC:
7:150645524 C / T
gnomAD v2:
7-150645524-C-T
gnomAD v3:
7-150948436-C-T
gnomAD v4:
7-150948436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948436C>T , CM000669.2:g.150948436C>T | GRCh38 |
| NC_000007.13:g.150645524C>T , CM000669.1:g.150645524C>T | GRCh37 |
| NC_000007.12:g.150276457C>T | NCBI36 |
| NG_008916.1:g.34491G>A , LRG_288:g.34491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3525+8G>A | ||
| ENST00000262186.10:c.2692+8G>A MANE Select | ENSP00000262186.5:n.2692+8G>A | |
| ENST00000330883.9:c.1672+8G>A | ENSP00000328531.4:n.1672+8G>A | |
| ENST00000262186.9:c.2692+8G>A | ENSP00000262186.5:n.2692+8G>A | |
| ENST00000330883.8:c.1672+8G>A | ENSP00000328531.4:n.1672+8G>A | |
| NM_000238.3:c.2692+8G>A , LRG_288t1:c.2692+8G>A | NP_000229.1:n.2692+8G>A | |
| NM_172057.2:c.1672+8G>A , LRG_288t3:c.1672+8G>A | NP_742054.1:n.1672+8G>A | |
| XM_011516185.1:c.2392+8G>A | XP_011514487.1:n.2392+8G>A | |
| XM_011516186.1:c.2692+8G>A | XP_011514488.1:n.2692+8G>A | |
| XM_011516185.2:c.2392+8G>A | XP_011514487.1:n.2392+8G>A | |
| XM_011516186.3:c.2692+8G>A | XP_011514488.1:n.2692+8G>A | |
| XM_017012195.1:c.2542+8G>A | XP_016867684.1:n.2542+8G>A | |
| XM_017012196.1:c.2515+8G>A | XP_016867685.1:n.2515+8G>A | |
| NM_000238.4:c.2692+8G>A MANE Select | NP_000229.1:n.2692+8G>A | |
| NM_172057.3:c.1672+8G>A | NP_742054.1:n.1672+8G>A |