Linked Data
ClinVar Variation Id:
40569
dbSNP Id:
rs3741983
gnomAD v2:
12-112939853-C-T
gnomAD v3:
12-112502049-C-T
gnomAD v4:
12-112502049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112502049C>T , CM000674.2:g.112502049C>T | GRCh38 |
| NC_000012.11:g.112939853C>T , CM000674.1:g.112939853C>T | GRCh37 |
| NC_000012.10:g.111424236C>T | NCBI36 |
| NG_007459.1:g.88318C>T , LRG_614:g.88318C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.1600-95C>T | ENSP00000491593.2:n.1600-95C>T | |
| ENST00000685487.1:c.*802-95C>T | ENSP00000508503.1:n.*802-95C>T | |
| ENST00000687120.1:n.888C>T | ||
| ENST00000687906.1:c.1486-95C>T | ENSP00000509536.1:n.1486-95C>T | |
| ENST00000688597.1:c.1225-95C>T | ENSP00000510628.1:n.1225-95C>T | |
| ENST00000688701.1:n.844-95C>T | ||
| ENST00000690210.1:c.1600-95C>T | ENSP00000509272.1:n.1600-95C>T | |
| ENST00000690472.1:n.809-95C>T | ||
| ENST00000692624.1:c.*146-95C>T | ENSP00000508953.1:n.*146-95C>T | |
| ENST00000351677.7:c.1600-95C>T MANE Select | ENSP00000340944.3:n.1600-95C>T | |
| ENST00000351677.6:c.1600-95C>T | ENSP00000340944.2:n.1600-95C>T | |
| ENST00000635625.1:c.1612-95C>T | ENSP00000489597.1:n.1612-95C>T | |
| NM_002834.3:c.1600-95C>T , LRG_614t1:c.1600-95C>T | NP_002825.3:n.1600-95C>T | |
| XM_006719526.1:c.1612-95C>T | XP_006719589.1:n.1612-95C>T | |
| XM_006719527.1:c.1498-95C>T | XP_006719590.1:n.1498-95C>T | |
| XM_011538613.1:c.1609-95C>T | XP_011536915.1:n.1609-95C>T | |
| NM_001330437.1:c.1612-95C>T | NP_001317366.1:n.1612-95C>T | |
| NM_002834.4:c.1600-95C>T | NP_002825.3:n.1600-95C>T | |
| XM_011538613.2:c.1609-95C>T | XP_011536915.1:n.1609-95C>T | |
| XM_017019722.1:c.1597-95C>T | XP_016875211.1:n.1597-95C>T | |
| NM_001330437.2:c.1612-95C>T | NP_001317366.1:n.1612-95C>T | |
| NM_001374625.1:c.1597-95C>T | NP_001361554.1:n.1597-95C>T | |
| NM_002834.5:c.1600-95C>T MANE Select | NP_002825.3:n.1600-95C>T |