Linked Data
ClinVar Variation Id:
493119
dbSNP Id:
rs377476830
ExAC:
12:66856731 G / A
gnomAD v2:
12-66856731-G-A
gnomAD v4:
12-66462951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66462951G>A , CM000674.2:g.66462951G>A | GRCh38 |
| NC_000012.11:g.66856731G>A , CM000674.1:g.66856731G>A | GRCh37 |
| NC_000012.10:g.65142998G>A | NCBI36 |
| NG_021400.1:g.221195C>T | |
| NG_021400.2:g.611315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.1240C>T | ENSP00000513025.1:p.Arg414Trp | |
| ENST00000359742.9:c.1015C>T MANE Select | ENSP00000352780.4:p.Arg339Trp | |
| ENST00000359742.8:c.1015C>T | ENSP00000352780.4:p.Arg339Trp | |
| ENST00000398016.7:c.1015C>T | ENSP00000381098.3:p.Arg339Trp | |
| ENST00000535002.1:c.148+2324C>T | ||
| ENST00000536215.5:c.847C>T | ENSP00000446011.1:p.Arg283Trp | |
| ENST00000538164.5:c.459C>T | ||
| ENST00000538211.5:c.1015C>T | ENSP00000446047.1:p.Arg339Trp | |
| ENST00000540433.5:c.847C>T | ENSP00000446024.1:p.Arg283Trp | |
| ENST00000540854.5:c.337+52668C>T | ENSP00000443006.1:n.337+52668C>T | |
| ENST00000543172.5:c.476C>T | ||
| NM_001178074.1:c.1015C>T | NP_001171545.1:p.Arg339Trp | |
| NM_021150.3:c.1015C>T | NP_066973.2:p.Arg339Trp | |
| XM_005268754.3:c.1018C>T | XP_005268811.1:p.Arg340Trp | |
| XM_005268757.3:c.937C>T | XP_005268814.1:p.Arg313Trp | |
| XM_011538089.1:c.1240C>T | XP_011536391.1:p.Arg414Trp | |
| XM_011538090.1:c.1240C>T | XP_011536392.1:p.Arg414Trp | |
| XM_011538091.1:c.1240C>T | XP_011536393.1:p.Arg414Trp | |
| XM_011538092.1:c.1240C>T | XP_011536394.1:p.Arg414Trp | |
| XM_011538093.1:c.1015C>T | XP_011536395.1:p.Arg339Trp | |
| XM_011538094.1:c.847C>T | XP_011536396.1:p.Arg283Trp | |
| NM_001366722.1:c.1015C>T MANE Select | NP_001353651.1:p.Arg339Trp | |
| NM_001366723.1:c.1093C>T | NP_001353652.1:p.Arg365Trp | |
| NM_001366724.1:c.1093C>T | NP_001353653.1:p.Arg365Trp | |
| XM_005268754.4:c.1018C>T | XP_005268811.1:p.Arg340Trp | |
| XM_005268757.4:c.937C>T | XP_005268814.1:p.Arg313Trp | |
| XM_017019098.1:c.1240C>T | XP_016874587.1:p.Arg414Trp | |
| XM_017019099.1:c.1093C>T | XP_016874588.1:p.Arg365Trp | |
| XM_017019100.1:c.1240C>T | XP_016874589.1:p.Arg414Trp | |
| NM_001178074.2:c.1015C>T | NP_001171545.1:p.Arg339Trp | |
| NM_021150.4:c.1015C>T | NP_066973.2:p.Arg339Trp | |
| NM_001379345.1:c.1093C>T | NP_001366274.1:p.Arg365Trp | |
| NM_001379346.1:c.1015C>T | NP_001366275.1:p.Arg339Trp | |
| NM_001379347.1:c.1093C>T | NP_001366276.1:p.Arg365Trp | |
| NM_001379348.1:c.1093C>T | NP_001366277.1:p.Arg365Trp | |
| NM_001379349.1:c.1018C>T | NP_001366278.1:p.Arg340Trp | |
| NM_001379351.1:c.1018C>T | NP_001366280.1:p.Arg340Trp |