Linked Data
ClinVar Variation Id:
7849
dbSNP Id:
rs121909239
COSMIC:
COSM5125
ERepo:
CA000564/MONDO:0017623/003
PubMed:
PMID:15805158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957973A>G , CM000672.2:g.87957973A>G | GRCh38 |
| NC_000010.10:g.89717730A>G , CM000672.1:g.89717730A>G | GRCh37 |
| NC_000010.9:g.89707710A>G | NCBI36 |
| NG_007466.2:g.99535A>G , LRG_311:g.99535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.755A>G | ENSP00000514759.2:p.Asp252Gly | |
| ENST00000710265.1:c.755A>G | ENSP00000518161.1:p.Asp252Gly | |
| ENST00000472832.3:c.755A>G | ENSP00000483066.2:p.Asp252Gly | |
| ENST00000688158.2:n.1490A>G | ||
| ENST00000688922.2:c.*585A>G | ENSP00000508742.2:n.*585A>G | |
| ENST00000700021.1:c.710A>G | ENSP00000514757.1:p.Asp237Gly | |
| ENST00000700022.1:c.*94A>G | ENSP00000514758.1:n.*94A>G | |
| ENST00000700023.1:n.1913A>G | ||
| ENST00000700024.1:n.2147A>G | ||
| ENST00000700025.1:n.1524A>G | ||
| ENST00000700026.1:n.392A>G | ||
| ENST00000700029.1:c.589A>G | ||
| ENST00000706954.1:c.755A>G | ENSP00000516674.1:p.Asp252Gly | |
| ENST00000706955.1:c.*790A>G | ENSP00000516675.1:n.*790A>G | |
| ENST00000686459.1:c.*341A>G | ENSP00000508909.1:n.*341A>G | |
| ENST00000688158.1:c.*866A>G | ENSP00000509254.1:n.*866A>G | |
| ENST00000688308.1:c.755A>G | ENSP00000508752.1:p.Asp252Gly | |
| ENST00000688922.1:c.676A>G | ||
| ENST00000693560.1:c.1274A>G | ENSP00000509861.1:p.Asp425Gly | |
| ENST00000371953.8:c.755A>G MANE Select | ENSP00000361021.3:p.Asp252Gly | |
| ENST00000371953.7:c.755A>G | ENSP00000361021.3:p.Asp252Gly | |
| ENST00000472832.2:c.182A>G | ENSP00000483066.1:p.Asp61Gly | |
| NM_000314.5:c.755A>G | NP_000305.3:p.Asp252Gly | |
| NM_000314.6:c.755A>G | NP_000305.3:p.Asp252Gly | |
| NM_001304717.2:c.1274A>G | NP_001291646.2:p.Asp425Gly | |
| NM_001304718.1:c.164A>G | NP_001291647.1:p.Asp55Gly | |
| XM_006717926.2:c.710A>G | XP_006717989.1:p.Asp237Gly | |
| XM_011539981.1:c.755A>G | XP_011538283.1:p.Asp252Gly | |
| XM_011539982.1:c.659A>G | XP_011538284.1:p.Asp220Gly | |
| XR_945791.1:n.1325A>G | ||
| NM_000314.7:c.755A>G | NP_000305.3:p.Asp252Gly | |
| NM_001304717.5:c.1274A>G | NP_001291646.4:p.Asp425Gly | |
| NM_001304718.2:c.164A>G | NP_001291647.1:p.Asp55Gly | |
| NM_000314.8:c.755A>G MANE Select | NP_000305.3:p.Asp252Gly |