Linked Data
ClinVar Variation Id:
262226
ClinVar RCV Id:
RCV000251743
dbSNP Id:
rs201967696
gnomAD v2:
12-25368387-G-A
gnomAD v3:
12-25215453-G-A
gnomAD v4:
12-25215453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25215453G>A , CM000674.2:g.25215453G>A | GRCh38 |
| NC_000012.11:g.25368387G>A , CM000674.1:g.25368387G>A | GRCh37 |
| NC_000012.10:g.25259654G>A | NCBI36 |
| NG_007524.1:g.40468C>T | |
| NG_007524.2:g.40551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-5542C>T | ENSP00000452512.1:n.112-5542C>T | |
| ENST00000685328.1:c.451-5542C>T | ENSP00000508921.1:n.451-5542C>T | |
| ENST00000686877.1:c.*422-5542C>T | ENSP00000510431.1:n.*422-5542C>T | |
| ENST00000687356.1:c.*149-5542C>T | ENSP00000510511.1:n.*149-5542C>T | |
| ENST00000688228.1:n.925-5542C>T | ||
| ENST00000688940.1:c.451-5542C>T | ENSP00000509238.1:n.451-5542C>T | |
| ENST00000690406.1:c.161-2247C>T | ||
| ENST00000690804.1:c.*412-5542C>T | ENSP00000508568.1:n.*412-5542C>T | |
| ENST00000692768.1:c.253-5542C>T | ENSP00000510254.1:n.253-5542C>T | |
| ENST00000693229.1:c.376-5542C>T | ENSP00000509223.1:n.376-5542C>T | |
| ENST00000256078.10:c.558C>T MANE Plus Clinical | ENSP00000256078.5:p.Cys186= | |
| ENST00000311936.8:c.451-5542C>T MANE Select | ENSP00000308495.3:n.451-5542C>T | |
| ENST00000256078.8:c.558C>T | ENSP00000256078.4:p.Cys186= | |
| ENST00000311936.7:c.451-5542C>T | ENSP00000308495.3:n.451-5542C>T | |
| ENST00000557334.5:c.112-5542C>T | ENSP00000452512.1:n.112-5542C>T | |
| NM_004985.4:c.451-5542C>T | NP_004976.2:n.451-5542C>T | |
| NM_033360.3:c.558C>T | NP_203524.1:p.Cys186= | |
| XM_006719069.2:c.558C>T | XP_006719132.1:p.Cys186= | |
| XM_011520653.1:c.451-5542C>T | XP_011518955.1:n.451-5542C>T | |
| XM_006719069.4:c.558C>T | XP_006719132.1:p.Cys186= | |
| XM_011520653.3:c.451-5542C>T | XP_011518955.1:n.451-5542C>T | |
| NM_001369786.1:c.558C>T | NP_001356715.1:p.Cys186= | |
| NM_001369787.1:c.451-5542C>T | NP_001356716.1:n.451-5542C>T | |
| NM_004985.5:c.451-5542C>T MANE Select | NP_004976.2:n.451-5542C>T | |
| NM_033360.4:c.558C>T MANE Plus Clinical | NP_203524.1:p.Cys186= |