Linked Data
ClinVar Variation Id:
60678
ClinVar RCV Id:
RCV000054493
dbSNP Id:
rs143889283
ExAC:
11:66333791 T / C
gnomAD v2:
11-66333791-T-C
gnomAD v3:
11-66566320-T-C
gnomAD v4:
11-66566320-T-C
PubMed:
PMID:23297359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66566320T>C , CM000673.2:g.66566320T>C | GRCh38 |
| NC_000011.9:g.66333791T>C , CM000673.1:g.66333791T>C | GRCh37 |
| NC_000011.8:g.66090367T>C | NCBI36 |
| NG_032973.1:g.7257A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310325.10:c.692A>G MANE Select | ENSP00000310832.5:p.Tyr231Cys | |
| ENST00000524994.6:c.689A>G | ENSP00000433082.2:p.Tyr230Cys | |
| ENST00000525733.6:c.692A>G | ENSP00000434936.2:p.Tyr231Cys | |
| ENST00000526010.2:c.416A>G | ENSP00000435822.2:p.Tyr139Cys | |
| ENST00000527141.6:n.591A>G | ||
| ENST00000529561.6:n.530A>G | ||
| ENST00000530565.6:n.221A>G | ||
| ENST00000533168.2:n.780A>G | ||
| ENST00000676860.1:n.643A>G | ||
| ENST00000676924.1:c.692A>G | ENSP00000503579.1:p.Tyr231Cys | |
| ENST00000677005.1:c.692A>G | ENSP00000503238.1:p.Tyr231Cys | |
| ENST00000677186.1:n.812A>G | ||
| ENST00000677298.1:n.1098A>G | ||
| ENST00000677365.1:n.751A>G | ||
| ENST00000677526.1:c.692A>G | ENSP00000504693.1:p.Tyr231Cys | |
| ENST00000677587.1:c.734A>G | ENSP00000503791.1:p.Tyr245Cys | |
| ENST00000677779.1:n.537A>G | ||
| ENST00000677896.1:c.683A>G | ENSP00000504605.1:p.Tyr228Cys | |
| ENST00000677920.1:c.692A>G | ENSP00000503614.1:p.Tyr231Cys | |
| ENST00000678154.1:c.*354A>G | ENSP00000502935.1:n.*354A>G | |
| ENST00000678294.1:n.808A>G | ||
| ENST00000678305.1:c.620A>G | ENSP00000504383.1:p.Tyr207Cys | |
| ENST00000678383.1:n.701A>G | ||
| ENST00000678413.1:c.692A>G | ENSP00000503232.1:p.Tyr231Cys | |
| ENST00000678471.1:c.692A>G | ENSP00000502949.1:p.Tyr231Cys | |
| ENST00000678710.1:c.692A>G | ENSP00000504254.1:p.Tyr231Cys | |
| ENST00000678872.1:c.692A>G | ENSP00000503425.1:p.Tyr231Cys | |
| ENST00000678946.1:n.624A>G | ||
| ENST00000678953.1:c.*428A>G | ENSP00000504169.1:n.*428A>G | |
| ENST00000679011.1:c.692A>G | ENSP00000503980.1:p.Tyr231Cys | |
| ENST00000679024.1:c.692A>G | ENSP00000503506.1:p.Tyr231Cys | |
| ENST00000679160.1:c.617A>G | ENSP00000503972.1:p.Tyr206Cys | |
| ENST00000679225.1:n.632A>G | ||
| ENST00000679314.1:c.692A>G | ENSP00000503465.1:p.Tyr231Cys | |
| ENST00000679347.1:c.692A>G | ENSP00000503676.1:p.Tyr231Cys | |
| ENST00000310325.9:c.692A>G | ENSP00000310832.5:p.Tyr231Cys | |
| ENST00000524994.5:c.234A>G | ||
| ENST00000527141.5:n.213A>G | ||
| ENST00000529561.5:n.530A>G | ||
| ENST00000533168.1:n.547A>G | ||
| NM_003793.3:c.692A>G | NP_003784.2:p.Tyr231Cys | |
| XM_011545328.1:c.512A>G | XP_011543630.1:p.Tyr171Cys | |
| XM_011545328.2:c.512A>G | XP_011543630.1:p.Tyr171Cys | |
| NM_003793.4:c.692A>G MANE Select | NP_003784.2:p.Tyr231Cys |