Linked Data
ClinVar Variation Id:
380785
dbSNP Id:
rs41265401
ExAC:
6:170176146 G / A
gnomAD v2:
6-170176146-G-A
gnomAD v3:
6-169776050-G-A
gnomAD v4:
6-169776050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169776050G>A , CM000668.2:g.169776050G>A | GRCh38 |
| NC_000006.11:g.170176146G>A , CM000668.1:g.170176146G>A | GRCh37 |
| NC_000006.10:g.169918071G>A | NCBI36 |
| NG_033842.1:g.29429G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366773.8:c.1505G>A MANE Select | ENSP00000355735.3:p.Arg502His | |
| ENST00000366771.5:n.1603G>A | ||
| ENST00000366772.6:c.1505G>A | ENSP00000355734.1:p.Arg502His | |
| ENST00000366773.7:c.1505G>A | ENSP00000355735.3:p.Arg502His | |
| ENST00000392095.8:c.1127G>A | ENSP00000375945.4:p.Arg376His | |
| ENST00000418781.7:c.1505G>A | ENSP00000397661.2:p.Arg502His | |
| ENST00000477995.1:n.173G>A | ||
| ENST00000492738.1:n.547G>A | ||
| ENST00000588451.1:c.1097G>A | ENSP00000468240.1:p.Arg366His | |
| NM_001278531.1:c.1505G>A | NP_001265460.1:p.Arg502His | |
| NM_001278532.1:c.1127G>A | NP_001265461.1:p.Arg376His | |
| NM_001278533.1:c.1505G>A | NP_001265462.1:p.Arg502His | |
| NM_018341.2:c.1505G>A | NP_060811.1:p.Arg502His | |
| XM_011535938.1:c.1475G>A | XP_011534240.1:p.Arg492His | |
| XM_011535939.1:c.1127G>A | XP_011534241.1:p.Arg376His | |
| XM_011535940.1:c.1127G>A | XP_011534242.1:p.Arg376His | |
| XR_942506.1:n.1541G>A | ||
| XR_942508.1:n.1464G>A | ||
| XM_011535938.3:c.1475G>A | XP_011534240.1:p.Arg492His | |
| XM_011535939.2:c.1127G>A | XP_011534241.1:p.Arg376His | |
| XM_011535940.2:c.1127G>A | XP_011534242.1:p.Arg376His | |
| XM_017011027.1:c.1166G>A | XP_016866516.1:p.Arg389His | |
| XM_017011028.2:c.1166G>A | XP_016866517.1:p.Arg389His | |
| XM_017011029.1:c.1166G>A | XP_016866518.1:p.Arg389His | |
| XM_017011030.1:c.1166G>A | XP_016866519.1:p.Arg389His | |
| XM_017011031.1:c.1166G>A | XP_016866520.1:p.Arg389His | |
| XM_017011032.1:c.1127G>A | XP_016866521.1:p.Arg376His | |
| XM_017011033.1:c.1127G>A | XP_016866522.1:p.Arg376His | |
| XM_024446486.1:c.1127G>A | XP_024302254.1:p.Arg376His | |
| XM_024446487.1:c.1097G>A | XP_024302255.1:p.Arg366His | |
| XR_942506.2:n.1538G>A | ||
| XR_942508.3:n.1461G>A | ||
| NM_018341.3:c.1505G>A MANE Select | NP_060811.1:p.Arg502His | |
| NM_001278531.2:c.1505G>A | NP_001265460.1:p.Arg502His | |
| NM_001278532.2:c.1127G>A | NP_001265461.1:p.Arg376His | |
| NM_001278533.2:c.1505G>A | NP_001265462.1:p.Arg502His |