Linked Data
ClinVar Variation Id:
138255
ClinVar RCV Id:
RCV000126821
RCV000212617
RCV000323210
RCV000409899
RCV000590738
RCV001083829
RCV003149864
dbSNP Id:
rs533553381
ExAC:
2:47703705 C / T
gnomAD v2:
2-47703705-C-T
gnomAD v3:
2-47476566-C-T
gnomAD v4:
2-47476566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47476566C>T , CM000664.2:g.47476566C>T | GRCh38 |
| NC_000002.11:g.47703705C>T , CM000664.1:g.47703705C>T | GRCh37 |
| NC_000002.10:g.47557209C>T | NCBI36 |
| NG_007110.2:g.78443C>T , LRG_218:g.78443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2205C>T | ENSP00000495641.2:p.Ile735= | |
| ENST00000233146.7:c.2205C>T MANE Select | ENSP00000233146.2:p.Ile735= | |
| ENST00000543555.6:c.2007C>T | ENSP00000442697.1:p.Ile669= | |
| ENST00000644092.1:c.*505C>T | ENSP00000496351.1:n.*505C>T | |
| ENST00000644900.1:c.58C>T | ||
| ENST00000645339.1:c.2205C>T | ENSP00000496441.1:p.Ile735= | |
| ENST00000645506.1:c.2205C>T | ENSP00000495455.1:p.Ile735= | |
| ENST00000646415.1:c.2205C>T | ENSP00000495543.1:p.Ile735= | |
| ENST00000233146.6:c.2205C>T | ENSP00000233146.2:p.Ile735= | |
| ENST00000406134.5:c.2205C>T | ENSP00000384199.1:p.Ile735= | |
| ENST00000543555.5:c.2007C>T | ENSP00000442697.1:p.Ile669= | |
| ENST00000610696.4:c.*601C>T | ENSP00000483159.1:n.*601C>T | |
| ENST00000613514.4:c.*745C>T | ENSP00000484137.1:n.*745C>T | |
| ENST00000617333.3:c.*971C>T | ENSP00000482468.1:n.*971C>T | |
| ENST00000617938.4:c.*1177C>T | ENSP00000481158.1:n.*1177C>T | |
| ENST00000621359.2:c.2205C>T | ENSP00000481416.1:p.Ile735= | |
| NM_000251.2:c.2205C>T , LRG_218t1:c.2205C>T | NP_000242.1:p.Ile735= | |
| NM_001258281.1:c.2007C>T | NP_001245210.1:p.Ile669= | |
| XM_005264332.2:c.2205C>T | XP_005264389.2:p.Ile735= | |
| XM_011532867.1:c.2205C>T | XP_011531169.1:p.Ile735= | |
| XR_939685.1:n.2277C>T | ||
| XM_005264332.4:c.2205C>T | XP_005264389.2:p.Ile735= | |
| XM_011532867.2:c.2205C>T | XP_011531169.1:p.Ile735= | |
| XR_001738747.2:n.2267C>T | ||
| XR_939685.2:n.2267C>T | ||
| NM_000251.3:c.2205C>T MANE Select | NP_000242.1:p.Ile735= |