Linked Data
ClinVar Variation Id:
241598
dbSNP Id:
rs144165094
ExAC:
15:44859744 C / T
gnomAD v2:
15-44859744-C-T
gnomAD v3:
15-44567546-C-T
gnomAD v4:
15-44567546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44567546C>T , CM000677.2:g.44567546C>T | GRCh38 |
| NC_000015.9:g.44859744C>T , CM000677.1:g.44859744C>T | GRCh37 |
| NC_000015.8:g.42647036C>T | NCBI36 |
| NG_008885.1:g.101133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.323G>A | ENSP00000453314.2:p.Arg108His | |
| ENST00000559511.6:c.6155G>A | ENSP00000453246.2:p.Arg2052His | |
| ENST00000682065.1:c.6488G>A | ENSP00000507025.1:p.Arg2163His | |
| ENST00000682460.1:c.*2889G>A | ENSP00000508334.1:n.*2889G>A | |
| ENST00000682495.1:c.*3124G>A | ENSP00000507166.1:n.*3124G>A | |
| ENST00000682669.1:c.6431G>A | ENSP00000507782.1:p.Arg2144His | |
| ENST00000683186.1:c.*3395G>A | ENSP00000507268.1:n.*3395G>A | |
| ENST00000683496.1:c.*274G>A | ENSP00000506968.1:n.*274G>A | |
| ENST00000683734.1:c.*582G>A | ENSP00000508319.1:n.*582G>A | |
| ENST00000683753.1:n.5678G>A | ||
| ENST00000684038.1:c.*3052G>A | ENSP00000507141.1:n.*3052G>A | |
| ENST00000684235.1:c.6632G>A | ENSP00000508295.1:p.Arg2211His | |
| ENST00000261866.12:c.6632G>A MANE Select | ENSP00000261866.7:p.Arg2211His | |
| ENST00000261866.11:c.6632G>A | ENSP00000261866.7:p.Arg2211His | |
| ENST00000427534.6:c.6632G>A | ENSP00000396110.2:p.Arg2211His | |
| ENST00000535302.6:c.6293G>A | ENSP00000445278.2:p.Arg2098His | |
| ENST00000558138.1:c.323G>A | ENSP00000453314.1:p.Arg108His | |
| ENST00000559347.1:n.461G>A | ||
| ENST00000559511.5:c.1003G>A | ||
| ENST00000561268.5:n.322G>A | ||
| NM_001160227.1:c.6293G>A | NP_001153699.1:p.Arg2098His | |
| NM_025137.3:c.6632G>A | NP_079413.3:p.Arg2211His | |
| XM_005254695.3:c.6374G>A | XP_005254752.1:p.Arg2125His | |
| XM_006720700.1:c.6488G>A | XP_006720763.1:p.Arg2163His | |
| XM_017022634.1:c.6524G>A | XP_016878123.1:p.Arg2175His | |
| XM_017022636.1:c.3509G>A | XP_016878125.1:p.Arg1170His | |
| NM_025137.4:c.6632G>A MANE Select | NP_079413.3:p.Arg2211His | |
| NM_001160227.2:c.6293G>A | NP_001153699.1:p.Arg2098His |