Linked Data
ClinVar Variation Id:
2081716
ClinVar RCV Id:
RCV002995557
dbSNP Id:
rs1281684412
gnomAD v2:
17-66518931-C-T
gnomAD v4:
17-68522790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68522790C>T , CM000679.2:g.68522790C>T | GRCh38 |
| NC_000017.10:g.66518931C>T , CM000679.1:g.66518931C>T | GRCh37 |
| NC_000017.9:g.64030526C>T | NCBI36 |
| NG_007093.3:g.114168C>T , LRG_514:g.114168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.212C>T | ENSP00000468106.2:p.Ala71Val | |
| ENST00000711037.1:c.212C>T | ENSP00000518555.1:p.Ala71Val | |
| ENST00000585427.6:c.212C>T | ENSP00000464715.2:p.Ala71Val | |
| ENST00000585981.6:c.212C>T | ENSP00000467311.2:p.Ala71Val | |
| ENST00000588178.6:c.212C>T | ENSP00000465013.2:p.Ala71Val | |
| ENST00000589017.6:c.212C>T | ENSP00000465445.2:p.Ala71Val | |
| ENST00000589480.6:c.212C>T | ENSP00000466649.2:p.Ala71Val | |
| ENST00000592800.6:c.212C>T | ENSP00000466314.2:p.Ala71Val | |
| ENST00000686019.1:n.331C>T | ||
| ENST00000691392.1:n.345C>T | ||
| ENST00000589228.6:c.212C>T MANE Select | ENSP00000464977.2:p.Ala71Val | |
| ENST00000358598.6:c.212C>T | ENSP00000351410.1:p.Ala71Val | |
| ENST00000392710.8:c.202C>T | ENSP00000376474.4:p.Gln68Ter | |
| ENST00000392711.5:c.212C>T | ENSP00000376475.1:p.Ala71Val | |
| ENST00000536854.6:c.212C>T | ENSP00000445625.1:p.Ala71Val | |
| ENST00000585427.5:c.212C>T | ENSP00000464715.1:p.Ala71Val | |
| ENST00000585460.1:n.337C>T | ||
| ENST00000585608.5:c.212C>T | ENSP00000466722.1:p.Ala71Val | |
| ENST00000585981.5:c.212C>T | ENSP00000467311.1:p.Ala71Val | |
| ENST00000586397.5:c.212C>T | ENSP00000466459.1:p.Ala71Val | |
| ENST00000588178.5:c.212C>T | ENSP00000465013.1:p.Ala71Val | |
| ENST00000588188.6:c.212C>T | ENSP00000468106.2:p.Ala71Val | |
| ENST00000588702.5:c.212C>T | ENSP00000464701.1:p.Ala71Val | |
| ENST00000589017.5:c.212C>T | ENSP00000465445.1:p.Ala71Val | |
| ENST00000589228.5:c.212C>T | ENSP00000464977.1:p.Ala71Val | |
| ENST00000589480.5:c.212C>T | ENSP00000466649.1:p.Ala71Val | |
| NM_001276289.1:c.212C>T | NP_001263218.1:p.Ala71Val | |
| NM_001276290.1:c.212C>T | NP_001263219.1:p.Ala71Val | |
| NM_001278433.1:c.212C>T | NP_001265362.1:p.Ala71Val | |
| NM_002734.4:c.212C>T , LRG_514t1:c.212C>T | NP_002725.1:p.Ala71Val | |
| NM_212471.2:c.212C>T | NP_997636.1:p.Ala71Val | |
| NM_212472.2:c.212C>T , LRG_514t2:c.212C>T | NP_997637.1:p.Ala71Val | |
| XM_011524983.1:c.212C>T | XP_011523285.1:p.Ala71Val | |
| XM_011524984.1:c.212C>T | XP_011523286.1:p.Ala71Val | |
| XM_011524985.1:c.212C>T | XP_011523287.1:p.Ala71Val | |
| XM_011524983.3:c.212C>T | XP_011523285.1:p.Ala71Val | |
| XM_011524984.3:c.212C>T | XP_011523286.1:p.Ala71Val | |
| XM_011524985.3:c.212C>T | XP_011523287.1:p.Ala71Val | |
| NM_001369389.1:c.212C>T | NP_001356318.1:p.Ala71Val | |
| NM_001369390.1:c.212C>T | NP_001356319.1:p.Ala71Val | |
| NM_002734.5:c.212C>T MANE Select | NP_002725.1:p.Ala71Val | |
| NM_001276289.2:c.212C>T | NP_001263218.1:p.Ala71Val | |
| NM_001278433.2:c.212C>T | NP_001265362.1:p.Ala71Val | |
| NM_212471.3:c.212C>T | NP_997636.1:p.Ala71Val |