Linked Data
ClinVar Variation Id:
220815
dbSNP Id:
rs113547523
ExAC:
14:105236727 C / T
gnomAD v2:
14-105236727-C-T
gnomAD v3:
14-104770390-C-T
gnomAD v4:
14-104770390-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104770390C>T , CM000676.2:g.104770390C>T | GRCh38 |
| NC_000014.8:g.105236727C>T , CM000676.1:g.105236727C>T | GRCh37 |
| NC_000014.7:g.104307772C>T | NCBI36 |
| NG_012188.1:g.30355G>A , LRG_721:g.30355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1295G>A | ENSP00000450681.3:p.Arg432His | |
| ENST00000554585.6:c.*220G>A | ENSP00000481526.2:n.*220G>A | |
| ENST00000555458.6:c.1363+355G>A | ENSP00000451470.3:n.1363+355G>A | |
| ENST00000553797.2:c.1469G>A | ENSP00000507566.1:p.Arg490His | |
| ENST00000554826.2:n.1863G>A | ||
| ENST00000610370.2:n.3380G>A | ||
| ENST00000683058.1:n.1271G>A | ||
| ENST00000683722.1:c.1394G>A | ENSP00000507879.1:p.Arg465His | |
| ENST00000684058.1:n.951G>A | ||
| ENST00000407796.7:c.1394G>A | ENSP00000384293.2:p.Arg465His | |
| ENST00000649815.2:c.1394G>A MANE Select | ENSP00000497822.1:p.Arg465His | |
| ENST00000349310.7:c.1394G>A | ENSP00000270202.4:p.Arg465His | |
| ENST00000402615.6:c.1394G>A | ENSP00000385326.2:p.Arg465His | |
| ENST00000407796.6:c.1394G>A | ENSP00000384293.2:p.Arg465His | |
| ENST00000544168.5:n.1329G>A | ||
| ENST00000553506.5:n.1792G>A | ||
| ENST00000554192.5:c.504G>A | ||
| ENST00000554581.5:c.1394G>A | ENSP00000451828.1:p.Arg465His | |
| ENST00000554585.5:c.661G>A | ENSP00000481526.1:n.661G>A | |
| ENST00000554848.5:c.1394G>A | ENSP00000451166.1:p.Arg465His | |
| ENST00000555458.5:c.470+355G>A | ||
| ENST00000555528.5:c.1394G>A | ENSP00000450688.1:p.Arg465His | |
| ENST00000557552.1:n.7358G>A | ||
| ENST00000610370.1:n.2149G>A | ||
| NM_001014431.1:c.1394G>A | NP_001014431.1:p.Arg465His | |
| NM_001014432.1:c.1394G>A , LRG_721t1:c.1394G>A | NP_001014432.1:p.Arg465His | |
| NM_005163.2:c.1394G>A , LRG_721t2:c.1394G>A | NP_005154.2:p.Arg465His | |
| XM_005267401.1:c.1394G>A | XP_005267458.1:p.Arg465His | |
| XM_011536543.1:c.1394G>A | XP_011534845.1:p.Arg465His | |
| XR_002957536.1:n.3111G>A | ||
| NM_001014431.2:c.1394G>A | NP_001014431.1:p.Arg465His | |
| NM_001014432.2:c.1394G>A | NP_001014432.1:p.Arg465His | |
| NM_001382430.1:c.1394G>A MANE Select | NP_001369359.1:p.Arg465His | |
| NM_001382431.1:c.1394G>A | NP_001369360.1:p.Arg465His | |
| NM_001382432.1:c.1394G>A | NP_001369361.1:p.Arg465His | |
| NM_001382433.1:c.1394G>A | NP_001369362.1:p.Arg465His |