Linked Data
ClinVar Variation Id:
1303252
ClinVar RCV Id:
RCV001757807
dbSNP Id:
rs767470753
ExAC:
12:133197629 G / T
gnomAD v2:
12-133197629-G-T
gnomAD v3:
12-132621043-G-T
gnomAD v4:
12-132621043-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132621043G>T , CM000674.2:g.132621043G>T | GRCh38 |
| NC_000012.11:g.133197629G>T , CM000674.1:g.133197629G>T | GRCh37 |
| NC_000012.10:g.131707702G>T | NCBI36 |
| NG_033909.1:g.7264G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643471.2:c.817G>T MANE Select | ENSP00000494644.1:p.Asp273Tyr | |
| ENST00000343948.8:c.817G>T | ENSP00000343339.4:p.Asp273Tyr | |
| ENST00000348800.9:c.817G>T | ENSP00000345095.5:p.Asp273Tyr | |
| ENST00000350048.9:c.745G>T | ENSP00000343904.5:p.Asp249Tyr | |
| ENST00000351222.8:c.541G>T | ENSP00000344502.4:p.Asp181Tyr | |
| ENST00000352418.8:c.601G>T | ENSP00000341419.4:p.Asp201Tyr | |
| ENST00000389110.7:c.817G>T | ENSP00000373762.3:p.Asp273Tyr | |
| ENST00000449132.6:c.715G>T | ENSP00000405531.2:p.Asp239Tyr | |
| ENST00000542301.2:c.817G>T | ENSP00000444477.2:p.Asp273Tyr | |
| NM_001282164.1:c.715G>T | NP_001269093.1:p.Asp239Tyr | |
| NM_001282165.1:c.817G>T | NP_001269094.1:p.Asp273Tyr | |
| NM_012226.4:c.601G>T | NP_036358.2:p.Asp201Tyr | |
| NM_016318.3:c.745G>T | NP_057402.1:p.Asp249Tyr | |
| NM_170682.3:c.817G>T | NP_733782.1:p.Asp273Tyr | |
| NM_170683.3:c.817G>T | NP_733783.1:p.Asp273Tyr | |
| NM_174872.2:c.541G>T | NP_777361.1:p.Asp181Tyr | |
| NM_174873.2:c.817G>T | NP_777362.1:p.Asp273Tyr | |
| XM_005266154.2:c.817G>T | XP_005266211.1:p.Asp273Tyr | |
| XM_005266155.3:c.817G>T | XP_005266212.1:p.Asp273Tyr | |
| XM_005266156.3:c.817G>T | XP_005266213.1:p.Asp273Tyr | |
| XM_011534786.1:c.745G>T | XP_011533088.1:p.Asp249Tyr | |
| XM_005266154.4:c.817G>T | XP_005266211.1:p.Asp273Tyr | |
| XM_005266155.5:c.817G>T | XP_005266212.1:p.Asp273Tyr | |
| XM_005266156.5:c.817G>T | XP_005266213.1:p.Asp273Tyr | |
| XM_011534786.3:c.745G>T | XP_011533088.1:p.Asp249Tyr | |
| XM_017019035.2:c.817G>T | XP_016874524.1:p.Asp273Tyr | |
| NM_001282164.2:c.715G>T | NP_001269093.1:p.Asp239Tyr | |
| NM_001282165.2:c.817G>T | NP_001269094.1:p.Asp273Tyr | |
| NM_012226.5:c.601G>T | NP_036358.2:p.Asp201Tyr | |
| NM_016318.4:c.745G>T | NP_057402.1:p.Asp249Tyr | |
| NM_170682.4:c.817G>T MANE Select | NP_733782.1:p.Asp273Tyr | |
| NM_170683.4:c.817G>T | NP_733783.1:p.Asp273Tyr | |
| NM_174872.3:c.541G>T | NP_777361.1:p.Asp181Tyr | |
| NM_174873.3:c.817G>T | NP_777362.1:p.Asp273Tyr |