Linked Data
ClinVar Variation Id:
15904
dbSNP Id:
rs137853227
gnomAD v3:
3-50256263-G-A
gnomAD v4:
3-50256263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256263G>A , CM000665.2:g.50256263G>A | GRCh38 |
| NC_000003.11:g.50293695G>A , CM000665.1:g.50293695G>A | GRCh37 |
| NC_000003.10:g.50268699G>A | NCBI36 |
| NG_016002.2:g.34576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313601.11:c.536G>A MANE Select | ENSP00000312999.6:p.Arg179His | |
| ENST00000266027.9:c.380G>A | ENSP00000266027.6:p.Arg127His | |
| ENST00000313601.10:c.536G>A | ENSP00000312999.6:p.Arg179His | |
| ENST00000422163.5:c.488G>A | ENSP00000406871.1:p.Arg163His | |
| ENST00000440628.5:c.380G>A | ENSP00000395736.1:p.Arg127His | |
| ENST00000441156.5:c.*64G>A | ENSP00000394321.1:n.*64G>A | |
| ENST00000446079.5:c.*171G>A | ENSP00000406065.1:n.*171G>A | |
| ENST00000451956.1:c.425G>A | ENSP00000406369.1:p.Arg142His | |
| ENST00000468422.1:n.103G>A | ||
| ENST00000490122.5:n.1363G>A | ||
| ENST00000491100.5:n.2352G>A | ||
| NM_001166425.1:c.425G>A | NP_001159897.1:p.Arg142His | |
| NM_001282617.1:c.380G>A | NP_001269546.1:p.Arg127His | |
| NM_001282618.1:c.293G>A | NP_001269547.1:p.Arg98His | |
| NM_001282619.1:c.488G>A | NP_001269548.1:p.Arg163His | |
| NM_001282620.1:c.488G>A | NP_001269549.1:p.Arg163His | |
| NM_002070.3:c.536G>A | NP_002061.1:p.Arg179His | |
| NM_002070.4:c.536G>A MANE Select | NP_002061.1:p.Arg179His | |
| NM_001166425.2:c.425G>A | NP_001159897.1:p.Arg142His | |
| NM_001282618.2:c.293G>A | NP_001269547.1:p.Arg98His | |
| NM_001282619.2:c.488G>A | NP_001269548.1:p.Arg163His | |
| NM_001282620.2:c.488G>A | NP_001269549.1:p.Arg163His | |
| NM_001282617.2:c.380G>A | NP_001269546.1:p.Arg127His |