Linked Data
ClinVar Variation Id:
183956
ClinVar RCV Id:
RCV000163040
RCV000759113
RCV001080852
RCV001798566
RCV001357863
RCV001140259
RCV001358733
RCV003995227
RCV004535062
dbSNP Id:
rs56076152
ExAC:
2:47705471 C / T
gnomAD v2:
2-47705471-C-T
gnomAD v3:
2-47478332-C-T
gnomAD v4:
2-47478332-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478332C>T , CM000664.2:g.47478332C>T | GRCh38 |
| NC_000002.11:g.47705471C>T , CM000664.1:g.47705471C>T | GRCh37 |
| NC_000002.10:g.47558975C>T | NCBI36 |
| NG_007110.2:g.80209C>T , LRG_218:g.80209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2271C>T | ENSP00000495641.2:p.Tyr757= | |
| ENST00000233146.7:c.2271C>T MANE Select | ENSP00000233146.2:p.Tyr757= | |
| ENST00000543555.6:c.2073C>T | ENSP00000442697.1:p.Tyr691= | |
| ENST00000644092.1:c.*571C>T | ENSP00000496351.1:n.*571C>T | |
| ENST00000644900.1:c.124C>T | ||
| ENST00000645339.1:c.2271C>T | ENSP00000496441.1:p.Tyr757= | |
| ENST00000645506.1:c.2271C>T | ENSP00000495455.1:p.Tyr757= | |
| ENST00000646415.1:c.2271C>T | ENSP00000495543.1:p.Tyr757= | |
| ENST00000233146.6:c.2271C>T | ENSP00000233146.2:p.Tyr757= | |
| ENST00000406134.5:c.2271C>T | ENSP00000384199.1:p.Tyr757= | |
| ENST00000543555.5:c.2073C>T | ENSP00000442697.1:p.Tyr691= | |
| ENST00000610696.4:c.*667C>T | ENSP00000483159.1:n.*667C>T | |
| ENST00000613514.4:c.*811C>T | ENSP00000484137.1:n.*811C>T | |
| ENST00000617333.3:c.*1037C>T | ENSP00000482468.1:n.*1037C>T | |
| ENST00000617938.4:c.*1243C>T | ENSP00000481158.1:n.*1243C>T | |
| ENST00000621359.2:c.2271C>T | ENSP00000481416.1:p.Tyr757= | |
| NM_000251.2:c.2271C>T , LRG_218t1:c.2271C>T | NP_000242.1:p.Tyr757= | |
| NM_001258281.1:c.2073C>T | NP_001245210.1:p.Tyr691= | |
| XM_005264332.2:c.2271C>T | XP_005264389.2:p.Tyr757= | |
| XM_011532867.1:c.2271C>T | XP_011531169.1:p.Tyr757= | |
| XR_939685.1:n.2343C>T | ||
| XM_005264332.4:c.2271C>T | XP_005264389.2:p.Tyr757= | |
| XM_011532867.2:c.2271C>T | XP_011531169.1:p.Tyr757= | |
| XR_001738747.2:n.2333C>T | ||
| XR_939685.2:n.2333C>T | ||
| NM_000251.3:c.2271C>T MANE Select | NP_000242.1:p.Tyr757= |