Linked Data
dbSNP Id:
rs373391689
ExAC:
19:41198022 C / T
gnomAD v2:
19-41198022-C-T
gnomAD v3:
19-40692117-C-T
gnomAD v4:
19-40692117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692117C>T , CM000681.2:g.40692117C>T | GRCh38 |
| NC_000019.9:g.41198022C>T , CM000681.1:g.41198022C>T | GRCh37 |
| NC_000019.8:g.45889862C>T | NCBI36 |
| NG_027800.1:g.29769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1553G>A MANE Select | ENSP00000315118.3:p.Arg518His | |
| ENST00000593724.2:n.3376G>A | ||
| ENST00000594490.6:c.1475G>A | ENSP00000471310.2:p.Arg492His | |
| ENST00000594720.6:c.1553G>A | ENSP00000470876.2:p.Arg518His | |
| ENST00000596455.6:n.1845G>A | ||
| ENST00000601967.6:c.1553G>A | ENSP00000470916.2:p.Arg518His | |
| ENST00000676555.1:c.*978G>A | ENSP00000503387.1:n.*978G>A | |
| ENST00000676578.1:c.*1295G>A | ENSP00000504076.1:n.*1295G>A | |
| ENST00000676960.1:n.1678G>A | ||
| ENST00000676962.1:n.1832G>A | ||
| ENST00000677018.1:c.1553G>A | ENSP00000503480.1:p.Arg518His | |
| ENST00000677039.1:n.3756G>A | ||
| ENST00000677399.1:n.1995G>A | ||
| ENST00000677496.1:c.1226G>A | ENSP00000504773.1:p.Arg409His | |
| ENST00000677517.1:c.1226G>A | ENSP00000503519.1:p.Arg409His | |
| ENST00000677633.1:c.*976G>A | ENSP00000503645.1:n.*976G>A | |
| ENST00000677800.1:c.*4657G>A | ENSP00000503794.1:n.*4657G>A | |
| ENST00000678057.1:c.*1117G>A | ENSP00000503762.1:n.*1117G>A | |
| ENST00000678119.1:n.1747G>A | ||
| ENST00000678166.1:n.1696G>A | ||
| ENST00000678312.1:n.1890G>A | ||
| ENST00000678316.1:c.*976G>A | ENSP00000504112.1:n.*976G>A | |
| ENST00000678371.1:n.2003G>A | ||
| ENST00000678404.1:c.1553G>A | ENSP00000503944.1:p.Arg518His | |
| ENST00000678419.1:c.1553G>A | ENSP00000504085.1:p.Arg518His | |
| ENST00000678433.1:n.1909G>A | ||
| ENST00000678467.1:c.1553G>A | ENSP00000504072.1:p.Arg518His | |
| ENST00000678569.1:c.*538G>A | ENSP00000504261.1:n.*538G>A | |
| ENST00000678961.1:n.1908G>A | ||
| ENST00000679002.1:n.1732G>A | ||
| ENST00000679012.1:c.1109G>A | ENSP00000504446.1:p.Arg370His | |
| ENST00000679070.1:c.*972G>A | ENSP00000503759.1:n.*972G>A | |
| ENST00000679130.1:c.1553G>A | ENSP00000504845.1:p.Arg518His | |
| ENST00000679315.1:c.*1383G>A | ENSP00000503065.1:n.*1383G>A | |
| ENST00000243583.10:c.1430G>A | ENSP00000243583.5:p.Arg477His | |
| ENST00000324464.7:c.1553G>A | ENSP00000315118.3:p.Arg518His | |
| ENST00000593724.1:n.1668G>A | ||
| NM_001142555.2:c.1430G>A | NP_001136027.1:p.Arg477His | |
| NM_024876.3:c.1553G>A | NP_079152.3:p.Arg518His | |
| XM_005259270.3:c.1715G>A | XP_005259327.2:p.Arg572His | |
| XM_005259271.3:c.1553G>A | XP_005259328.1:p.Arg518His | |
| XM_005259272.3:c.1553G>A | XP_005259329.1:p.Arg518His | |
| XM_005259273.3:c.1553G>A | XP_005259330.1:p.Arg518His | |
| XM_006723392.2:c.1553G>A | XP_006723455.1:p.Arg518His | |
| XM_006723393.2:c.1553G>A | XP_006723456.1:p.Arg518His | |
| XM_011527334.1:c.1553G>A | XP_011525636.1:p.Arg518His | |
| XM_011527335.1:c.1412G>A | XP_011525637.1:p.Arg471His | |
| XM_011527336.1:c.1583G>A | XP_011525638.1:p.Arg528His | |
| XM_011527337.1:c.1553G>A | XP_011525639.1:p.Arg518His | |
| XM_011527338.1:c.1553G>A | XP_011525640.1:p.Arg518His | |
| NM_024876.4:c.1553G>A MANE Select | NP_079152.3:p.Arg518His | |
| NM_001142555.3:c.1430G>A | NP_001136027.1:p.Arg477His |