Linked Data
ClinVar Variation Id:
14349
ClinVar RCV Id:
RCV000015423
dbSNP Id:
rs28928906
ExAC:
15:75189391 G / A
gnomAD v2:
15-75189391-G-A
gnomAD v3:
15-74897050-G-A
gnomAD v4:
15-74897050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74897050G>A , CM000677.2:g.74897050G>A | GRCh38 |
| NC_000015.9:g.75189391G>A , CM000677.1:g.75189391G>A | GRCh37 |
| NC_000015.8:g.72976444G>A | NCBI36 |
| NG_008921.1:g.11982G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.884G>A MANE Select | ENSP00000318318.6:p.Arg295His | |
| ENST00000323744.10:c.701G>A | ENSP00000318192.6:p.Arg234His | |
| ENST00000352410.8:c.884G>A | ENSP00000318318.6:p.Arg295His | |
| ENST00000535694.5:c.734G>A | ENSP00000440447.1:p.Arg245His | |
| ENST00000562800.5:c.256-489G>A | ENSP00000457619.1:n.256-489G>A | |
| ENST00000563786.5:c.824G>A | ENSP00000455241.1:p.Arg275His | |
| ENST00000566377.5:c.845-462G>A | ENSP00000455405.1:n.845-462G>A | |
| ENST00000566556.1:n.1617G>A | ||
| ENST00000567177.1:c.623-462G>A | ENSP00000457013.1:n.623-462G>A | |
| ENST00000569931.5:c.824G>A | ENSP00000455161.1:p.Arg275His | |
| NM_001289155.1:c.845-462G>A | NP_001276084.1:n.845-462G>A | |
| NM_001289156.1:c.734G>A | NP_001276085.1:p.Arg245His | |
| NM_001289157.1:c.701G>A | NP_001276086.1:p.Arg234His | |
| NM_002435.2:c.884G>A | NP_002426.1:p.Arg295His | |
| XM_011521592.1:c.872G>A | XP_011519894.1:p.Arg291His | |
| XM_011521593.1:c.824G>A | XP_011519895.1:p.Arg275His | |
| NM_001330372.1:c.824G>A | NP_001317301.1:p.Arg275His | |
| XM_017022208.1:c.785-462G>A | XP_016877697.1:n.785-462G>A | |
| XM_017022209.2:c.695-462G>A | XP_016877698.1:n.695-462G>A | |
| NM_002435.3:c.884G>A MANE Select | NP_002426.1:p.Arg295His | |
| NM_001289155.2:c.845-462G>A | NP_001276084.1:n.845-462G>A | |
| NM_001289156.2:c.734G>A | NP_001276085.1:p.Arg245His | |
| NM_001289157.2:c.701G>A | NP_001276086.1:p.Arg234His | |
| NM_001330372.2:c.824G>A | NP_001317301.1:p.Arg275His |