Linked Data
ClinVar Variation Id:
310296
ClinVar RCV Id:
RCV000312944
dbSNP Id:
rs191549204
gnomAD v2:
12-66742661-G-A
gnomAD v3:
12-66348881-G-A
gnomAD v4:
12-66348881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66348881G>A , CM000674.2:g.66348881G>A | GRCh38 |
| NC_000012.11:g.66742661G>A , CM000674.1:g.66742661G>A | GRCh37 |
| NC_000012.10:g.65028928G>A | NCBI36 |
| NG_021400.1:g.335265C>T | |
| NG_021400.2:g.725385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.*138C>T | ENSP00000513025.1:n.*138C>T | |
| ENST00000359742.9:c.*138C>T MANE Select | ENSP00000352780.4:n.*138C>T | |
| ENST00000359742.8:c.*138C>T | ENSP00000352780.4:n.*138C>T | |
| ENST00000398016.7:c.*138C>T | ENSP00000381098.3:n.*138C>T | |
| ENST00000538164.5:c.2924C>T | ||
| ENST00000540854.5:c.703C>T | ENSP00000443006.1:n.703C>T | |
| NM_001178074.1:c.*138C>T | NP_001171545.1:n.*138C>T | |
| NM_021150.3:c.*138C>T | NP_066973.2:n.*138C>T | |
| XM_005268754.3:c.*138C>T | XP_005268811.1:n.*138C>T | |
| XM_005268757.3:c.*138C>T | XP_005268814.1:n.*138C>T | |
| XM_011538089.1:c.*138C>T | XP_011536391.1:n.*138C>T | |
| XM_011538090.1:c.*138C>T | XP_011536392.1:n.*138C>T | |
| XM_011538091.1:c.*138C>T | XP_011536393.1:n.*138C>T | |
| XM_011538092.1:c.*138C>T | XP_011536394.1:n.*138C>T | |
| XM_011538093.1:c.*138C>T | XP_011536395.1:n.*138C>T | |
| XM_011538094.1:c.*138C>T | XP_011536396.1:n.*138C>T | |
| NM_001366722.1:c.*138C>T MANE Select | NP_001353651.1:n.*138C>T | |
| NM_001366723.1:c.*138C>T | NP_001353652.1:n.*138C>T | |
| NM_001366724.1:c.*138C>T | NP_001353653.1:n.*138C>T | |
| XM_005268754.4:c.*138C>T | XP_005268811.1:n.*138C>T | |
| XM_005268757.4:c.*138C>T | XP_005268814.1:n.*138C>T | |
| XM_017019098.1:c.*138C>T | XP_016874587.1:n.*138C>T | |
| XM_017019099.1:c.*138C>T | XP_016874588.1:n.*138C>T | |
| XM_017019100.1:c.*138C>T | XP_016874589.1:n.*138C>T | |
| NM_001178074.2:c.*138C>T | NP_001171545.1:n.*138C>T | |
| NM_021150.4:c.*138C>T | NP_066973.2:n.*138C>T | |
| NM_001379345.1:c.*138C>T | NP_001366274.1:n.*138C>T | |
| NM_001379346.1:c.*138C>T | NP_001366275.1:n.*138C>T | |
| NM_001379347.1:c.*138C>T | NP_001366276.1:n.*138C>T | |
| NM_001379348.1:c.*138C>T | NP_001366277.1:n.*138C>T | |
| NM_001379349.1:c.*138C>T | NP_001366278.1:n.*138C>T | |
| NM_001379351.1:c.*138C>T | NP_001366280.1:n.*138C>T |