Linked Data
ClinVar Variation Id:
11056
ClinVar RCV Id:
RCV000011805
dbSNP Id:
rs672601324
PubMed:
PMID:9450905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150645682G>A , CM000685.2:g.150645682G>A | GRCh38 |
| NC_000023.10:g.149814155G>A , CM000685.1:g.149814155G>A | GRCh37 |
| NC_000023.9:g.149564813G>A | NCBI36 |
| NG_008199.1:g.82109G>A , LRG_839:g.82109G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684910.1:c.*212-1G>A | ENSP00000509844.1:n.*212-1G>A | |
| ENST00000685439.1:c.334-1G>A | ENSP00000508454.1:n.334-1G>A | |
| ENST00000685944.1:c.679-1G>A | ENSP00000509266.1:n.679-1G>A | |
| ENST00000686212.1:n.281-1G>A | ||
| ENST00000687215.1:c.*434-1G>A | ENSP00000509706.1:n.*434-1G>A | |
| ENST00000688152.1:c.*123-1G>A | ENSP00000509360.1:n.*123-1G>A | |
| ENST00000688403.1:c.-66-1G>A | ENSP00000508944.1:n.-66-1G>A | |
| ENST00000689314.1:c.724-1G>A | ENSP00000510607.1:n.724-1G>A | |
| ENST00000689694.1:c.679-1G>A | ENSP00000508718.1:n.679-1G>A | |
| ENST00000689810.1:c.*328-1G>A | ENSP00000510635.1:n.*328-1G>A | |
| ENST00000690282.1:c.-66-1G>A | ENSP00000509809.1:n.-66-1G>A | |
| ENST00000690351.1:c.*331-1G>A | ENSP00000509728.1:n.*331-1G>A | |
| ENST00000691232.1:c.334-1G>A | ENSP00000509675.1:n.334-1G>A | |
| ENST00000691482.1:n.1694-1G>A | ||
| ENST00000691686.1:c.679-1G>A | ENSP00000509784.1:n.679-1G>A | |
| ENST00000691851.1:c.679-1G>A | ENSP00000510106.1:n.679-1G>A | |
| ENST00000692015.1:c.466-1G>A | ENSP00000510634.1:n.466-1G>A | |
| ENST00000692638.1:c.*484-1G>A | ENSP00000509412.1:n.*484-1G>A | |
| ENST00000692852.1:c.679-4034G>A | ENSP00000510337.1:n.679-4034G>A | |
| ENST00000692915.1:c.*886-1G>A | ENSP00000508547.1:n.*886-1G>A | |
| ENST00000370396.7:c.679-1G>A MANE Select | ENSP00000359423.3:n.679-1G>A | |
| ENST00000306167.11:n.546-1G>A | ||
| ENST00000370396.6:c.679-1G>A | ENSP00000359423.2:n.679-1G>A | |
| ENST00000490530.1:n.618-1G>A | ||
| NM_000252.2:c.679-1G>A , LRG_839t1:c.679-1G>A | NP_000243.1:n.679-1G>A | |
| XM_005274687.2:c.679-1G>A | XP_005274744.1:n.679-1G>A | |
| XM_011531170.1:c.745-1G>A | XP_011529472.1:n.745-1G>A | |
| XM_011531171.1:c.724-1G>A | XP_011529473.1:n.724-1G>A | |
| XM_011531172.1:c.724-1G>A | XP_011529474.1:n.724-1G>A | |
| XM_011531173.1:c.679-1G>A | XP_011529475.1:n.679-1G>A | |
| XM_011531173.2:c.679-1G>A | XP_011529475.1:n.679-1G>A | |
| XM_017029547.1:c.724-1G>A | XP_016885036.1:n.724-1G>A | |
| XM_017029548.1:c.724-1G>A | XP_016885037.1:n.724-1G>A | |
| XM_017029549.1:c.679-1G>A | XP_016885038.1:n.679-1G>A | |
| XM_017029550.1:c.568-1G>A | XP_016885039.1:n.568-1G>A | |
| XM_017029551.2:c.-66-1G>A | XP_016885040.1:n.-66-1G>A | |
| NM_000252.3:c.679-1G>A MANE Select | NP_000243.1:n.679-1G>A | |
| NM_001376906.1:c.679-1G>A | NP_001363835.1:n.679-1G>A | |
| NM_001376907.1:c.568-1G>A | NP_001363836.1:n.568-1G>A | |
| NM_001376908.1:c.679-1G>A | NP_001363837.1:n.679-1G>A |