Linked Data
dbSNP Id:
rs777191110
gnomAD v2:
18-21484303-C-T
gnomAD v3:
18-23904339-C-T
gnomAD v4:
18-23904339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23904339C>T , CM000680.2:g.23904339C>T | GRCh38 |
| NC_000018.9:g.21484303C>T , CM000680.1:g.21484303C>T | GRCh37 |
| NC_000018.8:g.19738301C>T | NCBI36 |
| NG_007853.2:g.219742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1647-214C>T MANE Plus Clinical | ENSP00000269217.5:n.1647-214C>T | |
| ENST00000313654.14:c.6474-214C>T MANE Select | ENSP00000324532.8:n.6474-214C>T | |
| ENST00000649721.1:c.3366-214C>T | ENSP00000497885.1:n.3366-214C>T | |
| ENST00000269217.10:c.1647-214C>T | ENSP00000269217.5:n.1647-214C>T | |
| ENST00000313654.13:c.6474-214C>T | ENSP00000324532.8:n.6474-214C>T | |
| ENST00000399516.7:c.6306-214C>T | ENSP00000382432.2:n.6306-214C>T | |
| ENST00000586751.5:c.1252-214C>T | ||
| ENST00000587184.5:c.1479-214C>T | ENSP00000466557.1:n.1479-214C>T | |
| ENST00000588770.5:n.1052-214C>T | ||
| NM_000227.4:c.1647-214C>T | NP_000218.3:n.1647-214C>T | |
| NM_001127717.2:c.6306-214C>T | NP_001121189.2:n.6306-214C>T | |
| NM_001127718.2:c.1479-214C>T | NP_001121190.2:n.1479-214C>T | |
| NM_198129.2:c.6474-214C>T | NP_937762.2:n.6474-214C>T | |
| XM_011525978.1:c.6501-214C>T | XP_011524280.1:n.6501-214C>T | |
| XM_011525979.1:c.6492-214C>T | XP_011524281.1:n.6492-214C>T | |
| XM_011525980.1:c.6483-214C>T | XP_011524282.1:n.6483-214C>T | |
| XM_011525981.1:c.6369-214C>T | XP_011524283.1:n.6369-214C>T | |
| XM_011525982.1:c.6501-214C>T | XP_011524284.1:n.6501-214C>T | |
| XM_011525978.2:c.6501-214C>T | XP_011524280.1:n.6501-214C>T | |
| XM_011525979.2:c.6492-214C>T | XP_011524281.1:n.6492-214C>T | |
| XM_011525980.2:c.6483-214C>T | XP_011524282.1:n.6483-214C>T | |
| XM_011525981.2:c.6369-214C>T | XP_011524283.1:n.6369-214C>T | |
| XM_011525982.2:c.6501-214C>T | XP_011524284.1:n.6501-214C>T | |
| XM_017025743.1:c.4353-214C>T | XP_016881232.1:n.4353-214C>T | |
| XM_017025744.1:c.2043-214C>T | XP_016881233.1:n.2043-214C>T | |
| XR_001753199.1:n.6742-214C>T | ||
| NM_000227.5:c.1647-214C>T | NP_000218.3:n.1647-214C>T | |
| NM_001127717.3:c.6306-214C>T | NP_001121189.2:n.6306-214C>T | |
| NM_001127718.3:c.1479-214C>T | NP_001121190.2:n.1479-214C>T | |
| NM_198129.3:c.6474-214C>T | NP_937762.2:n.6474-214C>T | |
| NM_000227.6:c.1647-214C>T MANE Plus Clinical | NP_000218.3:n.1647-214C>T | |
| NM_001127717.4:c.6306-214C>T | NP_001121189.2:n.6306-214C>T | |
| NM_001127718.4:c.1479-214C>T | NP_001121190.2:n.1479-214C>T | |
| NM_198129.4:c.6474-214C>T MANE Select | NP_937762.2:n.6474-214C>T |