Linked Data
ClinVar Variation Id:
1149741
ClinVar RCV Id:
RCV001490083
dbSNP Id:
rs1265842301
MyVariant Identifiers:
chr13:g.51522145T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50948009T>C , CM000675.2:g.50948009T>C | GRCh38 |
| NC_000013.10:g.51522145T>C , CM000675.1:g.51522145T>C | GRCh37 |
| NC_000013.9:g.50420146T>C | NCBI36 |
| NG_009055.1:g.43254T>C , LRG_279:g.43254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.639T>C MANE Select | ENSP00000337623.2:p.His213= | |
| ENST00000422660.6:c.639T>C | ENSP00000389877.1:p.His213= | |
| ENST00000459681.3:n.322T>C | ||
| ENST00000495244.7:n.650T>C | ||
| ENST00000611510.5:c.549T>C | ENSP00000481236.3:p.His183= | |
| ENST00000616907.2:c.639T>C | ENSP00000482701.2:p.His213= | |
| ENST00000642207.1:c.378T>C | ||
| ENST00000642454.1:c.549T>C | ENSP00000494221.1:p.His183= | |
| ENST00000642721.1:c.639T>C | ENSP00000495650.1:p.His213= | |
| ENST00000642995.1:c.522T>C | ENSP00000493499.1:p.His174= | |
| ENST00000643159.1:c.549T>C | ENSP00000495587.1:p.His183= | |
| ENST00000643215.1:c.509T>C | ||
| ENST00000643405.1:c.287T>C | ||
| ENST00000643529.1:c.152T>C | ||
| ENST00000643682.1:c.639T>C | ENSP00000493655.1:p.His213= | |
| ENST00000643774.1:c.603T>C | ENSP00000495482.1:p.His201= | |
| ENST00000644034.1:c.87T>C | ENSP00000495456.1:p.His29= | |
| ENST00000644183.1:c.529T>C | ENSP00000495657.1:n.529T>C | |
| ENST00000644297.1:c.*497T>C | ENSP00000495519.1:n.*497T>C | |
| ENST00000644420.1:n.665T>C | ||
| ENST00000644425.1:c.590T>C | ||
| ENST00000644518.1:c.*506T>C | ENSP00000495793.1:n.*506T>C | |
| ENST00000645188.1:c.630T>C | ENSP00000496224.1:p.His210= | |
| ENST00000645201.1:n.36T>C | ||
| ENST00000645333.1:n.571T>C | ||
| ENST00000645370.1:c.474T>C | ENSP00000494019.1:p.His158= | |
| ENST00000645618.1:c.549T>C | ENSP00000495429.1:p.His183= | |
| ENST00000645712.1:n.663T>C | ||
| ENST00000645955.1:c.639T>C | ENSP00000495755.1:p.His213= | |
| ENST00000645990.1:c.639T>C | ENSP00000496571.1:p.His213= | |
| ENST00000646092.1:c.603T>C | ENSP00000496293.1:p.His201= | |
| ENST00000646279.1:n.936T>C | ||
| ENST00000646339.1:c.301T>C | ENSP00000495773.1:n.301T>C | |
| ENST00000646709.1:c.549T>C | ENSP00000495278.1:p.His183= | |
| ENST00000646731.1:c.630T>C | ENSP00000493828.1:p.His210= | |
| ENST00000646960.1:c.639T>C | ENSP00000496481.1:p.His213= | |
| ENST00000646964.1:n.1278T>C | ||
| ENST00000647387.1:c.549T>C | ENSP00000495487.1:p.His183= | |
| ENST00000336617.7:c.639T>C | ENSP00000337623.2:p.His213= | |
| ENST00000422660.5:c.639T>C | ENSP00000389877.1:p.His213= | |
| ENST00000495244.6:n.650T>C | ||
| ENST00000611510.4:c.639T>C | ENSP00000481236.2:p.His213= | |
| ENST00000613449.4:n.2701T>C | ||
| ENST00000616907.1:c.22T>C | ||
| ENST00000621641.1:n.227T>C | ||
| NM_001142279.2:c.639T>C , LRG_279t1:c.639T>C | NP_001135751.1:p.His213= | |
| NM_024570.3:c.639T>C , LRG_279t2:c.639T>C | NP_078846.2:p.His213= | |
| XM_005266524.2:c.639T>C | XP_005266581.1:p.His213= | |
| XM_005266525.2:c.639T>C | XP_005266582.1:p.His213= | |
| XM_006719867.2:c.621T>C | XP_006719930.1:p.His207= | |
| XM_011535229.1:c.639T>C | XP_011533531.1:p.His213= | |
| XM_011535230.1:c.639T>C | XP_011533532.1:p.His213= | |
| XM_011535231.1:c.639T>C | XP_011533533.1:p.His213= | |
| XM_011535232.1:c.477T>C | XP_011533534.1:p.His159= | |
| XM_011535233.1:c.231T>C | XP_011533535.1:p.His77= | |
| XM_006719867.4:c.621T>C | XP_006719930.1:p.His207= | |
| XM_011535230.2:c.639T>C | XP_011533532.1:p.His213= | |
| XM_011535231.2:c.639T>C | XP_011533533.1:p.His213= | |
| XM_011535233.2:c.231T>C | XP_011533535.1:p.His77= | |
| XM_017020747.1:c.639T>C | XP_016876236.1:p.His213= | |
| NM_024570.4:c.639T>C MANE Select | NP_078846.2:p.His213= |