Linked Data
ClinVar Variation Id:
162048
ClinVar RCV Id:
RCV000149470
RCV000290037
RCV000305281
RCV000345001
RCV000403533
RCV002516006
RCV002516005
dbSNP Id:
rs556445621
ExAC:
10:102749139 G / A
gnomAD v2:
10-102749139-G-A
gnomAD v3:
10-100989382-G-A
gnomAD v4:
10-100989382-G-A
PubMed:
PMID:25355836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100989382G>A , CM000672.2:g.100989382G>A | GRCh38 |
| NC_000010.10:g.102749139G>A , CM000672.1:g.102749139G>A | GRCh37 |
| NC_000010.9:g.102739129G>A | NCBI36 |
| NG_011646.1:g.3134C>T | |
| NG_012624.1:g.6847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1172G>A MANE Select | ENSP00000309595.2:p.Arg391His | |
| ENST00000370228.2:c.1172G>A | ENSP00000359248.1:p.Arg391His | |
| ENST00000643860.1:c.1172G>A | ENSP00000494389.1:p.Arg391His | |
| ENST00000646226.1:n.59-262G>A | ||
| ENST00000650396.1:c.195G>A | ||
| ENST00000311916.6:c.1172G>A | ENSP00000309595.2:p.Arg391His | |
| ENST00000370228.1:c.1172G>A | ENSP00000359248.1:p.Arg391His | |
| ENST00000459764.1:n.87-262G>A | ||
| ENST00000473656.5:n.65-262G>A | ||
| ENST00000476766.5:n.192-324G>A | ||
| NM_001163812.1:c.1172G>A | NP_001157284.1:p.Arg391His | |
| NM_001163813.1:c.-119-262G>A | NP_001157285.1:n.-119-262G>A | |
| NM_001163814.1:c.-119-262G>A | NP_001157286.1:n.-119-262G>A | |
| NM_021830.4:c.1172G>A | NP_068602.2:p.Arg391His | |
| XM_011539974.1:c.-129G>A | XP_011538276.1:n.-129G>A | |
| XM_011539975.1:c.-57-324G>A | XP_011538277.1:n.-57-324G>A | |
| XR_945788.1:n.2005G>A | ||
| XM_011539975.2:c.-57-324G>A | XP_011538277.1:n.-57-324G>A | |
| XM_017016437.1:c.-129G>A | XP_016871926.1:n.-129G>A | |
| XR_001747142.1:n.1346G>A | ||
| XR_001747144.1:n.1346G>A | ||
| XR_002956991.1:n.1346G>A | ||
| XR_945788.2:n.1346G>A | ||
| NM_021830.5:c.1172G>A MANE Select | NP_068602.2:p.Arg391His | |
| NM_001163812.2:c.1172G>A | NP_001157284.1:p.Arg391His | |
| NM_001163813.2:c.-119-262G>A | NP_001157285.1:n.-119-262G>A | |
| NM_001163814.2:c.-119-262G>A | NP_001157286.1:n.-119-262G>A | |
| NM_001368275.1:c.-57-324G>A | NP_001355204.1:n.-57-324G>A | |
| NR_160738.1:n.1840G>A | ||
| NR_160739.1:n.72-262G>A | ||
| NR_160740.1:n.1840G>A | ||
| NR_160741.1:n.1840G>A | ||
| NR_160742.1:n.1840G>A |