Linked Data
dbSNP Id:
rs2131877
gnomAD v2:
3-194858374-G-A
gnomAD v3:
3-195137645-G-A
gnomAD v4:
3-195137645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195137645G>A , CM000665.2:g.195137645G>A | GRCh38 |
| NC_000003.11:g.194858374G>A , CM000665.1:g.194858374G>A | GRCh37 |
| NC_000003.10:g.196339663G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310380.11:c.785+18804C>T MANE Select | ENSP00000309640.6:n.785+18804C>T | |
| ENST00000310380.10:c.785+18804C>T | ENSP00000309640.6:n.785+18804C>T | |
| ENST00000418940.5:c.*166+18804C>T | ENSP00000393989.1:n.*166+18804C>T | |
| ENST00000429994.5:c.347+18804C>T | ENSP00000399422.1:n.347+18804C>T | |
| ENST00000437101.5:c.176+18804C>T | ENSP00000409865.1:n.176+18804C>T | |
| ENST00000473200.1:n.217+16242C>T | ||
| ENST00000491138.1:n.663+18804C>T | ||
| NM_001308069.1:c.347+18804C>T | NP_001294998.1:n.347+18804C>T | |
| NM_152531.4:c.785+18804C>T | NP_689744.3:n.785+18804C>T | |
| XM_005269285.2:c.224+18804C>T | XP_005269342.1:n.224+18804C>T | |
| XM_005269286.3:c.224+18804C>T | XP_005269343.1:n.224+18804C>T | |
| XM_005269288.2:c.224+18804C>T | XP_005269345.1:n.224+18804C>T | |
| XM_006713511.2:c.224+18804C>T | XP_006713574.1:n.224+18804C>T | |
| XM_006713512.2:c.188+18804C>T | XP_006713575.1:n.188+18804C>T | |
| XM_011512448.1:c.224+18804C>T | XP_011510750.1:n.224+18804C>T | |
| XM_011512449.1:c.188+18804C>T | XP_011510751.1:n.188+18804C>T | |
| XM_011512450.1:c.188+18804C>T | XP_011510752.1:n.188+18804C>T | |
| XR_924104.1:n.864+18804C>T | ||
| XM_005269286.5:c.224+18804C>T | XP_005269343.1:n.224+18804C>T | |
| XM_011512448.3:c.224+18804C>T | XP_011510750.1:n.224+18804C>T | |
| XM_017005750.2:c.176+18804C>T | XP_016861239.1:n.176+18804C>T | |
| NM_152531.5:c.785+18804C>T MANE Select | NP_689744.3:n.785+18804C>T | |
| NM_001308069.2:c.347+18804C>T | NP_001294998.1:n.347+18804C>T |