Linked Data
ClinVar Variation Id:
36725
ClinVar RCV Id:
RCV000030404
dbSNP Id:
rs193922699
PubMed:
PMID:19853744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114478A>G , CM000672.2:g.43114478A>G | GRCh38 |
| NC_000010.10:g.43609926A>G , CM000672.1:g.43609926A>G | GRCh37 |
| NC_000010.9:g.42929932A>G | NCBI36 |
| NG_007489.1:g.42410A>G , LRG_518:g.42410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1484-2A>G | ENSP00000480088.2:n.1484-2A>G | |
| ENST00000683007.1:n.1454-2A>G | ||
| ENST00000683872.1:n.1443A>G | ||
| ENST00000340058.6:c.1880-2A>G | ENSP00000344798.4:n.1880-2A>G | |
| ENST00000355710.8:c.1880-2A>G MANE Select | ENSP00000347942.3:n.1880-2A>G | |
| ENST00000671844.1:c.*474-2A>G | ENSP00000500541.1:n.*474-2A>G | |
| ENST00000672389.1:c.*474-2A>G | ENSP00000500252.1:n.*474-2A>G | |
| ENST00000340058.5:c.1880-2A>G | ENSP00000344798.4:n.1880-2A>G | |
| ENST00000355710.7:c.1880-2A>G | ENSP00000347942.3:n.1880-2A>G | |
| ENST00000498820.5:c.431-2A>G | ENSP00000419080.1:n.431-2A>G | |
| ENST00000615310.4:c.1289+3246A>G | ENSP00000480088.1:n.1289+3246A>G | |
| NM_020630.4:c.1880-2A>G , LRG_518t2:c.1880-2A>G | NP_065681.1:n.1880-2A>G | |
| NM_020975.4:c.1880-2A>G , LRG_518t1:c.1880-2A>G | NP_066124.1:n.1880-2A>G | |
| XM_011540027.1:c.1880-2A>G | XP_011538329.1:n.1880-2A>G | |
| NM_001355216.1:c.1118-2A>G | NP_001342145.1:n.1118-2A>G | |
| NM_020630.5:c.1880-2A>G | NP_065681.1:n.1880-2A>G | |
| NM_020975.5:c.1880-2A>G | NP_066124.1:n.1880-2A>G | |
| NM_020975.6:c.1880-2A>G MANE Select | NP_066124.1:n.1880-2A>G | |
| NM_020630.6:c.1880-2A>G | NP_065681.1:n.1880-2A>G |