Linked Data
ClinVar Variation Id:
189152
dbSNP Id:
rs786204732
gnomAD v4:
18-23921587-T-G
PubMed:
PMID:11810295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23921587T>G , CM000680.2:g.23921587T>G | GRCh38 |
| NC_000018.9:g.21501551T>G , CM000680.1:g.21501551T>G | GRCh37 |
| NC_000018.8:g.19755549T>G | NCBI36 |
| NG_007853.2:g.236990T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.3350+2T>G MANE Plus Clinical | ENSP00000269217.5:n.3350+2T>G | |
| ENST00000313654.14:c.8177+2T>G MANE Select | ENSP00000324532.8:n.8177+2T>G | |
| ENST00000649721.1:c.4772+2T>G | ENSP00000497885.1:n.4772+2T>G | |
| ENST00000269217.10:c.3350+2T>G | ENSP00000269217.5:n.3350+2T>G | |
| ENST00000313654.13:c.8177+2T>G | ENSP00000324532.8:n.8177+2T>G | |
| ENST00000399516.7:c.8009+2T>G | ENSP00000382432.2:n.8009+2T>G | |
| ENST00000586751.5:c.2955+2T>G | ||
| ENST00000587184.5:c.3182+2T>G | ENSP00000466557.1:n.3182+2T>G | |
| ENST00000588770.5:n.2755+2T>G | ||
| NM_000227.4:c.3350+2T>G | NP_000218.3:n.3350+2T>G | |
| NM_001127717.2:c.8009+2T>G | NP_001121189.2:n.8009+2T>G | |
| NM_001127718.2:c.3182+2T>G | NP_001121190.2:n.3182+2T>G | |
| NM_198129.2:c.8177+2T>G | NP_937762.2:n.8177+2T>G | |
| XM_011525978.1:c.8204+2T>G | XP_011524280.1:n.8204+2T>G | |
| XM_011525979.1:c.8195+2T>G | XP_011524281.1:n.8195+2T>G | |
| XM_011525980.1:c.8186+2T>G | XP_011524282.1:n.8186+2T>G | |
| XM_011525981.1:c.8072+2T>G | XP_011524283.1:n.8072+2T>G | |
| XM_011525982.1:c.7907+2T>G | XP_011524284.1:n.7907+2T>G | |
| XM_011525978.2:c.8204+2T>G | XP_011524280.1:n.8204+2T>G | |
| XM_011525979.2:c.8195+2T>G | XP_011524281.1:n.8195+2T>G | |
| XM_011525980.2:c.8186+2T>G | XP_011524282.1:n.8186+2T>G | |
| XM_011525981.2:c.8072+2T>G | XP_011524283.1:n.8072+2T>G | |
| XM_011525982.2:c.7907+2T>G | XP_011524284.1:n.7907+2T>G | |
| XM_017025743.1:c.6056+2T>G | XP_016881232.1:n.6056+2T>G | |
| XM_017025744.1:c.3746+2T>G | XP_016881233.1:n.3746+2T>G | |
| XR_001753199.1:n.8445+2T>G | ||
| NM_000227.5:c.3350+2T>G | NP_000218.3:n.3350+2T>G | |
| NM_001127717.3:c.8009+2T>G | NP_001121189.2:n.8009+2T>G | |
| NM_001127718.3:c.3182+2T>G | NP_001121190.2:n.3182+2T>G | |
| NM_198129.3:c.8177+2T>G | NP_937762.2:n.8177+2T>G | |
| NM_000227.6:c.3350+2T>G MANE Plus Clinical | NP_000218.3:n.3350+2T>G | |
| NM_001127717.4:c.8009+2T>G | NP_001121189.2:n.8009+2T>G | |
| NM_001127718.4:c.3182+2T>G | NP_001121190.2:n.3182+2T>G | |
| NM_198129.4:c.8177+2T>G MANE Select | NP_937762.2:n.8177+2T>G |