Linked Data
ClinVar Variation Id:
5435
ClinVar RCV Id:
RCV000005768
dbSNP Id:
rs28939075
PubMed:
PMID:12771268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93797082T>G , CM000672.2:g.93797082T>G | GRCh38 |
| NC_000010.10:g.95556839T>G , CM000672.1:g.95556839T>G | GRCh37 |
| NC_000010.9:g.95546829T>G | NCBI36 |
| NG_011832.1:g.44274T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371418.9:c.953T>G MANE Select | ENSP00000360472.4:p.Phe318Cys | |
| ENST00000485458.3:n.4929T>G | ||
| ENST00000635804.1:n.387T>G | ||
| ENST00000635953.1:c.*375T>G | ENSP00000490058.1:n.*375T>G | |
| ENST00000636155.1:c.838+3732T>G | ENSP00000490355.1:n.838+3732T>G | |
| ENST00000636232.1:c.*739T>G | ENSP00000490325.1:n.*739T>G | |
| ENST00000636754.1:c.*795T>G | ENSP00000489781.1:n.*795T>G | |
| ENST00000636946.1:c.*1008-667T>G | ENSP00000490654.1:n.*1008-667T>G | |
| ENST00000637037.1:c.*543T>G | ENSP00000490860.1:n.*543T>G | |
| ENST00000637347.1:n.814T>G | ||
| ENST00000637611.1:c.*509T>G | ENSP00000489682.1:n.*509T>G | |
| ENST00000637689.1:c.-419T>G | ENSP00000490496.1:n.-419T>G | |
| ENST00000637925.1:c.*548T>G | ENSP00000489763.1:n.*548T>G | |
| ENST00000638049.1:c.*711T>G | ENSP00000490597.1:n.*711T>G | |
| ENST00000676175.1:n.2692T>G | ||
| ENST00000371413.4:c.839-667T>G | ENSP00000360467.3:n.839-667T>G | |
| ENST00000371418.8:c.953T>G | ENSP00000360472.4:p.Phe318Cys | |
| ENST00000626307.1:n.4868T>G | ||
| ENST00000627420.2:c.*662T>G | ENSP00000487116.1:n.*662T>G | |
| ENST00000629035.2:c.881T>G | ENSP00000486908.1:p.Phe294Cys | |
| ENST00000630047.2:c.809T>G | ENSP00000485917.1:p.Phe270Cys | |
| NM_001308275.1:c.839-667T>G | NP_001295204.1:n.839-667T>G | |
| NM_001308276.1:c.809T>G | NP_001295205.1:p.Phe270Cys | |
| NM_005097.2:c.953T>G | NP_005088.1:p.Phe318Cys | |
| NM_005097.3:c.953T>G | NP_005088.1:p.Phe318Cys | |
| NR_131777.1:n.1217T>G | ||
| XM_017016912.2:c.695-667T>G | XP_016872401.1:n.695-667T>G | |
| NM_005097.4:c.953T>G MANE Select | NP_005088.1:p.Phe318Cys | |
| NM_001308275.2:c.839-667T>G | NP_001295204.1:n.839-667T>G | |
| NM_001308276.2:c.809T>G | NP_001295205.1:p.Phe270Cys | |
| NR_131777.2:n.1090T>G |