Linked Data
dbSNP Id:
rs2238735
gnomAD v2:
22-19046677-G-A
gnomAD v3:
22-19059164-G-A
gnomAD v4:
22-19059164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19059164G>A , CM000684.2:g.19059164G>A | GRCh38 |
| NC_000022.10:g.19046677G>A , CM000684.1:g.19046677G>A | GRCh37 |
| NC_000022.9:g.17426677G>A | NCBI36 |
| NG_021333.1:g.68291C>T | |
| NG_021333.2:g.68291C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263196.12:c.626-2002C>T MANE Select | ENSP00000263196.7:n.626-2002C>T | |
| ENST00000263196.11:c.626-2002C>T | ENSP00000263196.7:n.626-2002C>T | |
| ENST00000389262.8:c.-48+1402C>T | ENSP00000373914.4:n.-48+1402C>T | |
| ENST00000473832.1:n.438-2002C>T | ||
| ENST00000537045.5:c.503-2002C>T | ENSP00000440062.1:n.503-2002C>T | |
| ENST00000545799.5:c.626-2002C>T | ENSP00000445069.2:n.626-2002C>T | |
| ENST00000608548.1:n.77-2002C>T | ||
| ENST00000615747.1:c.626-2002C>T | ENSP00000482494.1:n.626-2002C>T | |
| NM_001173533.1:c.503-2002C>T | NP_001167004.1:n.503-2002C>T | |
| NM_001173534.1:c.494-2002C>T | NP_001167005.1:n.494-2002C>T | |
| NM_001184781.1:c.617-2002C>T | NP_001171710.1:n.617-2002C>T | |
| NM_005137.2:c.626-2002C>T | NP_005128.1:n.626-2002C>T | |
| NR_033674.1:n.759-2002C>T | ||
| XR_001755405.1:n.874-2002C>T | ||
| XR_001755406.2:n.823-2002C>T | ||
| NM_005137.3:c.626-2002C>T MANE Select | NP_005128.1:n.626-2002C>T | |
| NM_001173534.2:c.494-2002C>T | NP_001167005.1:n.494-2002C>T | |
| NM_001184781.2:c.617-2002C>T | NP_001171710.1:n.617-2002C>T | |
| NR_033674.2:n.717-2002C>T | ||
| NM_001173533.2:c.503-2002C>T | NP_001167004.1:n.503-2002C>T |