Linked Data
dbSNP Id:
rs1044654806
gnomAD v2:
18-21495099-C-G
gnomAD v3:
18-23915135-C-G
gnomAD v4:
18-23915135-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23915135C>G , CM000680.2:g.23915135C>G | GRCh38 |
| NC_000018.9:g.21495099C>G , CM000680.1:g.21495099C>G | GRCh37 |
| NC_000018.8:g.19749097C>G | NCBI36 |
| NG_007853.2:g.230538C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.2818-154C>G MANE Plus Clinical | ENSP00000269217.5:n.2818-154C>G | |
| ENST00000313654.14:c.7645-154C>G MANE Select | ENSP00000324532.8:n.7645-154C>G | |
| ENST00000649721.1:c.4240-154C>G | ENSP00000497885.1:n.4240-154C>G | |
| ENST00000269217.10:c.2818-154C>G | ENSP00000269217.5:n.2818-154C>G | |
| ENST00000313654.13:c.7645-154C>G | ENSP00000324532.8:n.7645-154C>G | |
| ENST00000399516.7:c.7477-154C>G | ENSP00000382432.2:n.7477-154C>G | |
| ENST00000586751.5:c.2423-154C>G | ||
| ENST00000587184.5:c.2650-154C>G | ENSP00000466557.1:n.2650-154C>G | |
| ENST00000588770.5:n.2223-154C>G | ||
| NM_000227.4:c.2818-154C>G | NP_000218.3:n.2818-154C>G | |
| NM_001127717.2:c.7477-154C>G | NP_001121189.2:n.7477-154C>G | |
| NM_001127718.2:c.2650-154C>G | NP_001121190.2:n.2650-154C>G | |
| NM_198129.2:c.7645-154C>G | NP_937762.2:n.7645-154C>G | |
| XM_011525978.1:c.7672-154C>G | XP_011524280.1:n.7672-154C>G | |
| XM_011525979.1:c.7663-154C>G | XP_011524281.1:n.7663-154C>G | |
| XM_011525980.1:c.7654-154C>G | XP_011524282.1:n.7654-154C>G | |
| XM_011525981.1:c.7540-154C>G | XP_011524283.1:n.7540-154C>G | |
| XM_011525982.1:c.7375-154C>G | XP_011524284.1:n.7375-154C>G | |
| XM_011525978.2:c.7672-154C>G | XP_011524280.1:n.7672-154C>G | |
| XM_011525979.2:c.7663-154C>G | XP_011524281.1:n.7663-154C>G | |
| XM_011525980.2:c.7654-154C>G | XP_011524282.1:n.7654-154C>G | |
| XM_011525981.2:c.7540-154C>G | XP_011524283.1:n.7540-154C>G | |
| XM_011525982.2:c.7375-154C>G | XP_011524284.1:n.7375-154C>G | |
| XM_017025743.1:c.5524-154C>G | XP_016881232.1:n.5524-154C>G | |
| XM_017025744.1:c.3214-154C>G | XP_016881233.1:n.3214-154C>G | |
| XR_001753199.1:n.7913-154C>G | ||
| NM_000227.5:c.2818-154C>G | NP_000218.3:n.2818-154C>G | |
| NM_001127717.3:c.7477-154C>G | NP_001121189.2:n.7477-154C>G | |
| NM_001127718.3:c.2650-154C>G | NP_001121190.2:n.2650-154C>G | |
| NM_198129.3:c.7645-154C>G | NP_937762.2:n.7645-154C>G | |
| NM_000227.6:c.2818-154C>G MANE Plus Clinical | NP_000218.3:n.2818-154C>G | |
| NM_001127717.4:c.7477-154C>G | NP_001121189.2:n.7477-154C>G | |
| NM_001127718.4:c.2650-154C>G | NP_001121190.2:n.2650-154C>G | |
| NM_198129.4:c.7645-154C>G MANE Select | NP_937762.2:n.7645-154C>G |