Linked Data
ClinVar Variation Id:
2901582
ClinVar RCV Id:
RCV003760340
dbSNP Id:
rs147188969
gnomAD v4:
9-127815922-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815922G>A , CM000671.2:g.127815922G>A | GRCh38 |
| NC_000009.11:g.130578201G>A , CM000671.1:g.130578201G>A | GRCh37 |
| NC_000009.10:g.129618022G>A | NCBI36 |
| NG_009551.1:g.43847C>T , LRG_589:g.43847C>T | |
| NG_023245.1:g.18048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1306+21C>T | ENSP00000479015.1:n.1306+21C>T | |
| ENST00000373203.9:c.1852+21C>T MANE Select | ENSP00000362299.4:n.1852+21C>T | |
| ENST00000344849.4:c.1873C>T | ENSP00000341917.3:p.Gln625Ter | |
| ENST00000373203.8:c.1852+21C>T | ENSP00000362299.4:n.1852+21C>T | |
| ENST00000480266.5:c.1306+21C>T | ENSP00000479015.1:n.1306+21C>T | |
| NM_000118.3:c.1873C>T , LRG_589t1:c.1873C>T | NP_000109.1:p.Gln625Ter | |
| NM_001114753.2:c.1852+21C>T , LRG_589t2:c.1852+21C>T | NP_001108225.1:n.1852+21C>T | |
| NM_001278138.1:c.1306+21C>T | NP_001265067.1:n.1306+21C>T | |
| NM_001114753.3:c.1852+21C>T MANE Select | NP_001108225.1:n.1852+21C>T | |
| NM_001278138.2:c.1306+21C>T | NP_001265067.1:n.1306+21C>T |