Linked Data
ClinVar Variation Id:
138845
dbSNP Id:
rs730880328
gnomAD v2:
12-112943646-C-T
gnomAD v3:
12-112505842-C-T
gnomAD v4:
12-112505842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112505842C>T , CM000674.2:g.112505842C>T | GRCh38 |
| NC_000012.11:g.112943646C>T , CM000674.1:g.112943646C>T | GRCh37 |
| NC_000012.10:g.111428029C>T | NCBI36 |
| NG_007459.1:g.92111C>T , LRG_614:g.92111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1730C>T | ENSP00000491593.2:p.Ser577Phe | |
| ENST00000685487.1:c.*1034C>T | ENSP00000508503.1:n.*1034C>T | |
| ENST00000687120.1:n.3653C>T | ||
| ENST00000687906.1:c.*50C>T | ENSP00000509536.1:n.*50C>T | |
| ENST00000688597.1:c.*50C>T | ENSP00000510628.1:n.*50C>T | |
| ENST00000688701.1:n.1076C>T | ||
| ENST00000690210.1:c.*50C>T | ENSP00000509272.1:n.*50C>T | |
| ENST00000690472.1:n.1041C>T | ||
| ENST00000692624.1:c.*378C>T | ENSP00000508953.1:n.*378C>T | |
| ENST00000351677.7:c.*50C>T MANE Select | ENSP00000340944.3:n.*50C>T | |
| ENST00000351677.6:c.*50C>T | ENSP00000340944.2:n.*50C>T | |
| NM_002834.3:c.*50C>T , LRG_614t1:c.*50C>T | NP_002825.3:n.*50C>T | |
| XM_006719526.1:c.*50C>T | XP_006719589.1:n.*50C>T | |
| XM_006719527.1:c.*50C>T | XP_006719590.1:n.*50C>T | |
| XM_011538613.1:c.*50C>T | XP_011536915.1:n.*50C>T | |
| NM_001330437.1:c.*50C>T | NP_001317366.1:n.*50C>T | |
| NM_002834.4:c.*50C>T | NP_002825.3:n.*50C>T | |
| XM_011538613.2:c.*50C>T | XP_011536915.1:n.*50C>T | |
| XM_017019722.1:c.*50C>T | XP_016875211.1:n.*50C>T | |
| NM_001330437.2:c.*50C>T | NP_001317366.1:n.*50C>T | |
| NM_001374625.1:c.*50C>T | NP_001361554.1:n.*50C>T | |
| NM_002834.5:c.*50C>T MANE Select | NP_002825.3:n.*50C>T |