Linked Data
ClinVar Variation Id:
1220310
ClinVar RCV Id:
RCV001592568
dbSNP Id:
rs139202966
ExAC:
19:41209646 C / T
gnomAD v2:
19-41209646-C-T
gnomAD v3:
19-40703741-C-T
gnomAD v4:
19-40703741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40703741C>T , CM000681.2:g.40703741C>T | GRCh38 |
| NC_000019.9:g.41209646C>T , CM000681.1:g.41209646C>T | GRCh37 |
| NC_000019.8:g.45901486C>T | NCBI36 |
| NG_027800.1:g.18145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.691G>A MANE Select | ENSP00000315118.3:p.Gly231Arg | |
| ENST00000593724.2:n.393-119G>A | ||
| ENST00000594490.6:c.613G>A | ENSP00000471310.2:p.Gly205Arg | |
| ENST00000594720.6:c.691G>A | ENSP00000470876.2:p.Gly231Arg | |
| ENST00000596455.6:n.983G>A | ||
| ENST00000601967.6:c.691G>A | ENSP00000470916.2:p.Gly231Arg | |
| ENST00000676555.1:c.691G>A | ENSP00000503387.1:p.Gly231Arg | |
| ENST00000676578.1:c.*433G>A | ENSP00000504076.1:n.*433G>A | |
| ENST00000676960.1:n.816G>A | ||
| ENST00000676962.1:n.970G>A | ||
| ENST00000677018.1:c.691G>A | ENSP00000503480.1:p.Gly231Arg | |
| ENST00000677039.1:n.746G>A | ||
| ENST00000677399.1:n.1133G>A | ||
| ENST00000677496.1:c.364G>A | ENSP00000504773.1:p.Gly122Arg | |
| ENST00000677517.1:c.364G>A | ENSP00000503519.1:p.Gly122Arg | |
| ENST00000677633.1:c.*114G>A | ENSP00000503645.1:n.*114G>A | |
| ENST00000677800.1:c.*3795G>A | ENSP00000503794.1:n.*3795G>A | |
| ENST00000678057.1:c.*255G>A | ENSP00000503762.1:n.*255G>A | |
| ENST00000678119.1:n.885G>A | ||
| ENST00000678166.1:n.861-119G>A | ||
| ENST00000678312.1:n.1028G>A | ||
| ENST00000678316.1:c.*114G>A | ENSP00000504112.1:n.*114G>A | |
| ENST00000678371.1:n.1049G>A | ||
| ENST00000678404.1:c.691G>A | ENSP00000503944.1:p.Gly231Arg | |
| ENST00000678419.1:c.691G>A | ENSP00000504085.1:p.Gly231Arg | |
| ENST00000678433.1:n.1051G>A | ||
| ENST00000678467.1:c.691G>A | ENSP00000504072.1:p.Gly231Arg | |
| ENST00000678569.1:c.691G>A | ENSP00000504261.1:p.Gly231Arg | |
| ENST00000678961.1:n.874G>A | ||
| ENST00000679002.1:n.870G>A | ||
| ENST00000679012.1:c.247G>A | ENSP00000504446.1:p.Gly83Arg | |
| ENST00000679070.1:c.*114G>A | ENSP00000503759.1:n.*114G>A | |
| ENST00000679130.1:c.691G>A | ENSP00000504845.1:p.Gly231Arg | |
| ENST00000679315.1:c.*521G>A | ENSP00000503065.1:n.*521G>A | |
| ENST00000243583.10:c.568G>A | ENSP00000243583.5:p.Gly190Arg | |
| ENST00000324464.7:c.691G>A | ENSP00000315118.3:p.Gly231Arg | |
| ENST00000595254.5:c.364G>A | ENSP00000470894.1:p.Gly122Arg | |
| ENST00000596455.5:n.811G>A | ||
| ENST00000599643.5:c.336-119G>A | ENSP00000471192.1:n.336-119G>A | |
| ENST00000601304.5:c.*465G>A | ENSP00000472519.1:n.*465G>A | |
| NM_001142555.2:c.568G>A | NP_001136027.1:p.Gly190Arg | |
| NM_024876.3:c.691G>A | NP_079152.3:p.Gly231Arg | |
| XM_005259270.3:c.853G>A | XP_005259327.2:p.Gly285Arg | |
| XM_005259271.3:c.691G>A | XP_005259328.1:p.Gly231Arg | |
| XM_005259272.3:c.691G>A | XP_005259329.1:p.Gly231Arg | |
| XM_005259273.3:c.691G>A | XP_005259330.1:p.Gly231Arg | |
| XM_006723392.2:c.691G>A | XP_006723455.1:p.Gly231Arg | |
| XM_006723393.2:c.691G>A | XP_006723456.1:p.Gly231Arg | |
| XM_011527334.1:c.691G>A | XP_011525636.1:p.Gly231Arg | |
| XM_011527335.1:c.577-119G>A | XP_011525637.1:n.577-119G>A | |
| XM_011527336.1:c.721G>A | XP_011525638.1:p.Gly241Arg | |
| XM_011527337.1:c.691G>A | XP_011525639.1:p.Gly231Arg | |
| XM_011527338.1:c.691G>A | XP_011525640.1:p.Gly231Arg | |
| NM_024876.4:c.691G>A MANE Select | NP_079152.3:p.Gly231Arg | |
| NM_001142555.3:c.568G>A | NP_001136027.1:p.Gly190Arg |