Linked Data
ClinVar Variation Id:
6731
ClinVar RCV Id:
RCV000007123
dbSNP Id:
rs587776641
PubMed:
PMID:19557857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127653797G>A , CM000671.2:g.127653797G>A | GRCh38 |
| NC_000009.11:g.130416076G>A , CM000671.1:g.130416076G>A | GRCh37 |
| NC_000009.10:g.129455897G>A | NCBI36 |
| NG_016623.1:g.46591G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704680.1:c.127+1G>A | ENSP00000515991.1:n.127+1G>A | |
| ENST00000704681.1:c.169+1G>A | ENSP00000515992.1:n.169+1G>A | |
| ENST00000373299.5:c.169+1G>A MANE Select | ENSP00000362396.2:n.169+1G>A | |
| ENST00000373302.8:c.169+1G>A MANE Plus Clinical | ENSP00000362399.3:n.169+1G>A | |
| ENST00000626539.3:c.127+1G>A | ENSP00000487211.2:n.127+1G>A | |
| ENST00000635950.2:c.169+1G>A | ENSP00000490903.1:n.169+1G>A | |
| ENST00000636509.2:c.127+1G>A | ENSP00000490810.1:n.127+1G>A | |
| ENST00000636962.2:c.169+1G>A | ENSP00000489762.1:n.169+1G>A | |
| ENST00000637060.2:c.169+1G>A | ENSP00000490674.2:n.169+1G>A | |
| ENST00000637173.2:c.127+1G>A | ENSP00000490519.1:n.127+1G>A | |
| ENST00000637464.2:c.169+1G>A | ENSP00000489655.2:n.169+1G>A | |
| ENST00000637521.2:c.127+1G>A | ENSP00000489791.1:n.127+1G>A | |
| ENST00000637953.1:c.169+1G>A | ENSP00000490613.1:n.169+1G>A | |
| ENST00000647107.1:c.111+1G>A | ||
| ENST00000650920.1:c.127+1G>A | ENSP00000498834.1:n.127+1G>A | |
| ENST00000373299.4:c.169+1G>A | ENSP00000362396.1:n.169+1G>A | |
| ENST00000373302.7:c.169+1G>A | ENSP00000362399.3:n.169+1G>A | |
| ENST00000625363.2:c.127+1G>A | ENSP00000486944.1:n.127+1G>A | |
| ENST00000626333.1:c.127+1G>A | ENSP00000486814.1:n.127+1G>A | |
| ENST00000626539.2:c.127+1G>A | ENSP00000487211.1:n.127+1G>A | |
| ENST00000627871.2:c.58+1G>A | ENSP00000485895.1:n.58+1G>A | |
| ENST00000630492.2:c.127+1G>A | ENSP00000485680.1:n.127+1G>A | |
| NM_001032221.3:c.169+1G>A | NP_001027392.1:n.169+1G>A | |
| NM_003165.3:c.169+1G>A | NP_003156.1:n.169+1G>A | |
| NM_001032221.6:c.169+1G>A MANE Select | NP_001027392.1:n.169+1G>A | |
| NM_001374306.2:c.169+1G>A | NP_001361235.1:n.169+1G>A | |
| NM_001374307.2:c.127+1G>A | NP_001361236.1:n.127+1G>A | |
| NM_001374308.2:c.127+1G>A | NP_001361237.1:n.127+1G>A | |
| NM_001374309.2:c.127+1G>A | NP_001361238.1:n.127+1G>A | |
| NM_001374310.2:c.127+1G>A | NP_001361239.1:n.127+1G>A | |
| NM_001374311.2:c.127+1G>A | NP_001361240.1:n.127+1G>A | |
| NM_001374312.2:c.127+1G>A | NP_001361241.1:n.127+1G>A | |
| NM_001374313.2:c.169+1G>A | NP_001361242.1:n.169+1G>A | |
| NM_001374314.1:c.169+1G>A | NP_001361243.1:n.169+1G>A | |
| NM_001374315.2:c.169+1G>A | NP_001361244.1:n.169+1G>A | |
| NM_003165.6:c.169+1G>A MANE Plus Clinical | NP_003156.1:n.169+1G>A |