Linked Data
ClinVar Variation Id:
445314
dbSNP Id:
rs1444613668
gnomAD v2:
2-86481922-A-G
gnomAD v3:
2-86254799-A-G
gnomAD v4:
2-86254799-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86254799A>G , CM000664.2:g.86254799A>G | GRCh38 |
| NC_000002.11:g.86481922A>G , CM000664.1:g.86481922A>G | GRCh37 |
| NC_000002.10:g.86335433A>G | NCBI36 |
| NG_013037.1:g.88285T>C , LRG_713:g.88285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.198T>C | ENSP00000495610.2:p.Tyr66= | |
| ENST00000686220.1:c.117T>C | ENSP00000509904.1:p.Tyr39= | |
| ENST00000688400.1:c.106-21997T>C | ENSP00000510490.1:n.106-21997T>C | |
| ENST00000689156.1:c.198T>C | ENSP00000509143.1:p.Tyr66= | |
| ENST00000691093.1:c.18T>C | ENSP00000509465.1:p.Tyr6= | |
| ENST00000691703.1:c.198T>C | ENSP00000508496.1:p.Tyr66= | |
| ENST00000692664.1:c.48T>C | ENSP00000508656.1:p.Tyr16= | |
| ENST00000693329.1:c.198T>C | ENSP00000508490.1:p.Tyr66= | |
| ENST00000453231.6:c.219T>C | ENSP00000392197.2:p.Tyr73= | |
| ENST00000535845.6:c.117T>C | ENSP00000437567.1:p.Tyr39= | |
| ENST00000538924.7:c.198T>C MANE Select | ENSP00000438346.3:p.Tyr66= | |
| ENST00000541910.6:c.182+9166T>C | ENSP00000442681.1:n.182+9166T>C | |
| ENST00000642243.1:c.156T>C | ENSP00000494960.1:p.Tyr52= | |
| ENST00000643817.1:c.156T>C | ENSP00000495610.1:p.Tyr52= | |
| ENST00000644644.1:c.156T>C | ENSP00000494305.1:p.Tyr52= | |
| ENST00000165698.9:c.198T>C | ENSP00000165698.5:p.Tyr66= | |
| ENST00000428491.5:c.117T>C | ENSP00000400607.1:p.Tyr39= | |
| ENST00000437769.5:c.182+9166T>C | ENSP00000401140.1:n.182+9166T>C | |
| ENST00000453231.5:c.219T>C | ENSP00000392197.1:p.Tyr73= | |
| ENST00000473407.5:n.288T>C | ||
| ENST00000489855.2:c.134T>C | ||
| ENST00000490915.5:n.220T>C | ||
| ENST00000535845.5:c.117T>C | ENSP00000437567.1:p.Tyr39= | |
| ENST00000538924.5:c.219T>C | ENSP00000438346.1:p.Tyr73= | |
| ENST00000541910.5:c.182+9166T>C | ENSP00000442681.1:n.182+9166T>C | |
| NM_001164730.1:c.219T>C , LRG_713t1:c.219T>C | NP_001158202.1:p.Tyr73= | |
| NM_001164731.1:c.117T>C | NP_001158203.1:p.Tyr39= | |
| NM_001164732.1:c.182+9166T>C | NP_001158204.1:n.182+9166T>C | |
| NM_022912.2:c.198T>C , LRG_713t2:c.198T>C | NP_075063.1:p.Tyr66= | |
| XM_005264502.1:c.198T>C | XP_005264559.1:p.Tyr66= | |
| XM_005264504.1:c.84T>C | XP_005264561.1:p.Tyr28= | |
| XM_011533043.1:c.219T>C | XP_011531345.1:p.Tyr73= | |
| XM_011533044.1:c.180T>C | XP_011531346.1:p.Tyr60= | |
| XM_011533045.1:c.174T>C | XP_011531347.1:p.Tyr58= | |
| XM_011533046.1:c.219T>C | XP_011531348.1:p.Tyr73= | |
| XM_005264502.2:c.198T>C | XP_005264559.1:p.Tyr66= | |
| XM_011533045.2:c.174T>C | XP_011531347.1:p.Tyr58= | |
| XM_017004725.1:c.219T>C | XP_016860214.1:p.Tyr73= | |
| XM_017004726.1:c.219T>C | XP_016860215.1:p.Tyr73= | |
| XM_017004727.1:c.219T>C | XP_016860216.1:p.Tyr73= | |
| NM_001164730.2:c.219T>C | NP_001158202.1:p.Tyr73= | |
| NM_001164731.2:c.117T>C | NP_001158203.1:p.Tyr39= | |
| NM_001164732.2:c.182+9166T>C | NP_001158204.1:n.182+9166T>C | |
| NM_001371279.1:c.198T>C MANE Select | NP_001358208.1:p.Tyr66= | |
| NM_001371280.1:c.198T>C | NP_001358209.1:p.Tyr66= | |
| NM_022912.3:c.198T>C | NP_075063.1:p.Tyr66= |