Linked Data
dbSNP Id:
rs11868035
ExAC:
17:17715101 G / A
gnomAD v2:
17-17715101-G-A
gnomAD v3:
17-17811787-G-A
gnomAD v4:
17-17811787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17811787G>A , CM000679.2:g.17811787G>A | GRCh38 |
| NC_000017.10:g.17715101G>A , CM000679.1:g.17715101G>A | GRCh37 |
| NC_000017.9:g.17655826G>A | NCBI36 |
| NG_007101.2:g.135315G>A | |
| NG_029029.1:g.30225C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261646.11:c.*835C>T MANE Select | ENSP00000261646.5:n.*835C>T | |
| ENST00000261646.10:c.*835C>T | ENSP00000261646.5:n.*835C>T | |
| ENST00000395757.6:c.3187-3C>T | ENSP00000379106.2:n.3187-3C>T | |
| ENST00000485080.6:c.398-57C>T | ENSP00000466643.1:n.398-57C>T | |
| ENST00000578469.1:c.160-3C>T | ||
| NM_001005291.2:c.*835C>T | NP_001005291.1:n.*835C>T | |
| NM_004176.4:c.*835C>T | NP_004167.3:n.*835C>T | |
| XM_005256772.3:c.*835C>T | XP_005256829.1:n.*835C>T | |
| XM_006721570.2:c.*835C>T | XP_006721633.1:n.*835C>T | |
| XM_011523998.1:c.*835C>T | XP_011522300.1:n.*835C>T | |
| XM_011523999.1:c.*835C>T | XP_011522301.1:n.*835C>T | |
| XR_429821.2:n.4294-3C>T | ||
| XM_024450895.1:c.*250C>T | XP_024306663.1:n.*250C>T | |
| XR_002958058.1:n.3586-3C>T | ||
| NM_001005291.3:c.*835C>T | NP_001005291.1:n.*835C>T | |
| NM_001321096.3:c.*835C>T | NP_001308025.1:n.*835C>T | |
| NM_001388385.1:c.*835C>T | NP_001375314.1:n.*835C>T | |
| NM_001388386.1:c.*660C>T | NP_001375315.1:n.*660C>T | |
| NM_001388387.1:c.*835C>T | NP_001375316.1:n.*835C>T | |
| NM_001388388.1:c.*660C>T | NP_001375317.1:n.*660C>T | |
| NM_001388389.1:c.*835C>T | NP_001375318.1:n.*835C>T | |
| NM_001388390.1:c.*835C>T | NP_001375319.1:n.*835C>T | |
| NM_001388391.1:c.*835C>T | NP_001375320.1:n.*835C>T | |
| NM_001388392.1:c.*835C>T | NP_001375321.1:n.*835C>T | |
| NM_001388393.1:c.*835C>T | NP_001375322.1:n.*835C>T | |
| NM_001388394.1:c.*835C>T | NP_001375323.1:n.*835C>T | |
| NM_004176.5:c.*835C>T MANE Select | NP_004167.3:n.*835C>T | |
| NR_170943.1:n.4263-3C>T | ||
| NR_170944.1:n.3468-3C>T | ||
| NR_170945.1:n.3558-3C>T | ||
| NR_170990.1:n.3468-57C>T |