Linked Data
ClinVar Variation Id:
1750019
dbSNP Id:
rs1226340631
gnomAD v2:
6-7583335-A-G
gnomAD v4:
6-7583102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583102A>G , CM000668.2:g.7583102A>G | GRCh38 |
| NC_000006.11:g.7583335A>G , CM000668.1:g.7583335A>G | GRCh37 |
| NC_000006.10:g.7528334A>G | NCBI36 |
| NG_008803.1:g.46466A>G , LRG_423:g.46466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4511A>G | ENSP00000518230.1:p.Tyr1504Cys | |
| ENST00000379802.8:c.5840A>G MANE Select | ENSP00000369129.3:p.Tyr1947Cys | |
| ENST00000379802.7:c.5840A>G | ENSP00000369129.3:p.Tyr1947Cys | |
| ENST00000418664.2:c.4043A>G | ENSP00000396591.2:p.Tyr1348Cys | |
| NM_001008844.1:c.4043A>G | NP_001008844.1:p.Tyr1348Cys | |
| NM_004415.2:c.5840A>G , LRG_423t1:c.5840A>G | NP_004406.2:p.Tyr1947Cys | |
| XM_011514323.1:c.4511A>G | XP_011512625.1:p.Tyr1504Cys | |
| NM_001008844.2:c.4043A>G | NP_001008844.1:p.Tyr1348Cys | |
| NM_001319034.1:c.4511A>G | NP_001305963.1:p.Tyr1504Cys | |
| NM_004415.3:c.5840A>G | NP_004406.2:p.Tyr1947Cys | |
| NM_004415.4:c.5840A>G MANE Select | NP_004406.2:p.Tyr1947Cys | |
| NM_001008844.3:c.4043A>G | NP_001008844.1:p.Tyr1348Cys | |
| NM_001319034.2:c.4511A>G | NP_001305963.1:p.Tyr1504Cys |