Linked Data
ClinVar Variation Id:
899995
dbSNP Id:
rs1053472547
gnomAD v3:
4-186285749-T-C
gnomAD v4:
4-186285749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285749T>C , CM000666.2:g.186285749T>C | GRCh38 |
| NC_000004.11:g.187206903T>C , CM000666.1:g.187206903T>C | GRCh37 |
| NC_000004.10:g.187443897T>C | NCBI36 |
| NG_008051.1:g.24786T>C , LRG_583:g.24786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1416T>C MANE Select | ENSP00000384957.2:p.Tyr472= | |
| ENST00000264691.4:c.112T>C | ||
| ENST00000264692.8:c.1254T>C | ENSP00000264692.5:p.Tyr418= | |
| ENST00000403665.6:c.1416T>C | ENSP00000384957.2:p.Tyr472= | |
| NM_000128.3:c.1416T>C , LRG_583t1:c.1416T>C | NP_000119.1:p.Tyr472= | |
| XM_005262821.2:c.1419T>C | XP_005262878.1:p.Tyr473= | |
| XM_005262822.2:c.1419T>C | XP_005262879.1:p.Tyr473= | |
| XM_005262823.2:c.1149T>C | XP_005262880.1:p.Tyr383= | |
| XM_005262824.1:c.1419T>C | XP_005262881.1:p.Tyr473= | |
| XM_006714137.1:c.1371T>C | XP_006714200.1:p.Tyr457= | |
| XR_938706.1:n.1824T>C | ||
| XR_938707.1:n.1824T>C | ||
| XM_005262821.4:c.1419T>C | XP_005262878.1:p.Tyr473= | |
| XM_005262822.4:c.1419T>C | XP_005262879.1:p.Tyr473= | |
| XM_005262823.4:c.1149T>C | XP_005262880.1:p.Tyr383= | |
| XM_006714137.3:c.1371T>C | XP_006714200.1:p.Tyr457= | |
| XR_001741172.2:n.1890T>C | ||
| NM_000128.4:c.1416T>C MANE Select | NP_000119.1:p.Tyr472= |