Linked Data
ClinVar Variation Id:
1420729
ClinVar RCV Id:
RCV001943617
dbSNP Id:
rs747779747
ExAC:
11:88027511 T / C
gnomAD v2:
11-88027511-T-C
gnomAD v3:
11-88294343-T-C
gnomAD v4:
11-88294343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294343T>C , CM000673.2:g.88294343T>C | GRCh38 |
| NC_000011.9:g.88027511T>C , CM000673.1:g.88027511T>C | GRCh37 |
| NC_000011.8:g.87667159T>C | NCBI36 |
| NG_007952.1:g.48431A>G , LRG_50:g.48431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1055A>G MANE Select | ENSP00000227266.4:p.Tyr352Cys | |
| ENST00000533897.2:n.5368A>G | ||
| ENST00000676612.1:c.*862A>G | ENSP00000504440.1:n.*862A>G | |
| ENST00000677208.1:c.*561A>G | ENSP00000504347.1:n.*561A>G | |
| ENST00000677661.1:c.*732A>G | ENSP00000503323.1:n.*732A>G | |
| ENST00000677802.1:c.*732A>G | ENSP00000504115.1:n.*732A>G | |
| ENST00000678395.1:c.*561A>G | ENSP00000503123.1:n.*561A>G | |
| ENST00000678464.1:c.1022A>G | ENSP00000503046.1:p.Tyr341Cys | |
| ENST00000678506.1:c.1016A>G | ENSP00000503580.1:p.Tyr339Cys | |
| ENST00000678520.1:c.*706A>G | ENSP00000503361.1:n.*706A>G | |
| ENST00000678554.1:c.889+1790A>G | ENSP00000504541.1:n.889+1790A>G | |
| ENST00000678915.1:c.923A>G | ENSP00000504805.1:p.Tyr308Cys | |
| ENST00000679224.1:c.692A>G | ENSP00000504475.1:p.Tyr231Cys | |
| ENST00000227266.9:c.1055A>G | ENSP00000227266.4:p.Tyr352Cys | |
| ENST00000533897.1:n.3789A>G | ||
| NM_001814.4:c.1055A>G , LRG_50t1:c.1055A>G | NP_001805.3:p.Tyr352Cys | |
| NM_001814.5:c.1055A>G | NP_001805.3:p.Tyr352Cys | |
| NM_001814.6:c.1055A>G MANE Select | NP_001805.4:p.Tyr352Cys |