Linked Data
ClinVar Variation Id:
91849
ClinVar RCV Id:
RCV000077757
dbSNP Id:
rs398122981
ExAC:
19:41206223 G / A
gnomAD v2:
19-41206223-G-A
gnomAD v4:
19-40700318-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40700318G>A , CM000681.2:g.40700318G>A | GRCh38 |
| NC_000019.9:g.41206223G>A , CM000681.1:g.41206223G>A | GRCh37 |
| NC_000019.8:g.45898063G>A | NCBI36 |
| NG_027800.1:g.21568C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.1027C>T MANE Select | ENSP00000315118.3:p.Arg343Trp | |
| ENST00000593724.2:n.2850C>T | ||
| ENST00000594490.6:c.949C>T | ENSP00000471310.2:p.Arg317Trp | |
| ENST00000594720.6:c.1027C>T | ENSP00000470876.2:p.Arg343Trp | |
| ENST00000596455.6:n.1319C>T | ||
| ENST00000601967.6:c.1027C>T | ENSP00000470916.2:p.Arg343Trp | |
| ENST00000676555.1:c.1027C>T | ENSP00000503387.1:p.Arg343Trp | |
| ENST00000676578.1:c.*769C>T | ENSP00000504076.1:n.*769C>T | |
| ENST00000676960.1:n.1152C>T | ||
| ENST00000676962.1:n.1306C>T | ||
| ENST00000677018.1:c.1027C>T | ENSP00000503480.1:p.Arg343Trp | |
| ENST00000677039.1:n.3230C>T | ||
| ENST00000677399.1:n.1469C>T | ||
| ENST00000677496.1:c.700C>T | ENSP00000504773.1:p.Arg234Trp | |
| ENST00000677517.1:c.700C>T | ENSP00000503519.1:p.Arg234Trp | |
| ENST00000677633.1:c.*450C>T | ENSP00000503645.1:n.*450C>T | |
| ENST00000677800.1:c.*4131C>T | ENSP00000503794.1:n.*4131C>T | |
| ENST00000678057.1:c.*591C>T | ENSP00000503762.1:n.*591C>T | |
| ENST00000678119.1:n.1221C>T | ||
| ENST00000678166.1:n.1170C>T | ||
| ENST00000678312.1:n.1364C>T | ||
| ENST00000678316.1:c.*450C>T | ENSP00000504112.1:n.*450C>T | |
| ENST00000678371.1:n.1477C>T | ||
| ENST00000678404.1:c.1027C>T | ENSP00000503944.1:p.Arg343Trp | |
| ENST00000678419.1:c.1027C>T | ENSP00000504085.1:p.Arg343Trp | |
| ENST00000678433.1:n.1383C>T | ||
| ENST00000678467.1:c.1027C>T | ENSP00000504072.1:p.Arg343Trp | |
| ENST00000678569.1:c.*12C>T | ENSP00000504261.1:n.*12C>T | |
| ENST00000678961.1:n.1382C>T | ||
| ENST00000679002.1:n.1206C>T | ||
| ENST00000679012.1:c.583C>T | ENSP00000504446.1:p.Arg195Trp | |
| ENST00000679070.1:c.*446C>T | ENSP00000503759.1:n.*446C>T | |
| ENST00000679130.1:c.1027C>T | ENSP00000504845.1:p.Arg343Trp | |
| ENST00000679315.1:c.*857C>T | ENSP00000503065.1:n.*857C>T | |
| ENST00000243583.10:c.904C>T | ENSP00000243583.5:p.Arg302Trp | |
| ENST00000324464.7:c.1027C>T | ENSP00000315118.3:p.Arg343Trp | |
| ENST00000593724.1:n.1142C>T | ||
| NM_001142555.2:c.904C>T | NP_001136027.1:p.Arg302Trp | |
| NM_024876.3:c.1027C>T | NP_079152.3:p.Arg343Trp | |
| XM_005259270.3:c.1189C>T | XP_005259327.2:p.Arg397Trp | |
| XM_005259271.3:c.1027C>T | XP_005259328.1:p.Arg343Trp | |
| XM_005259272.3:c.1027C>T | XP_005259329.1:p.Arg343Trp | |
| XM_005259273.3:c.1027C>T | XP_005259330.1:p.Arg343Trp | |
| XM_006723392.2:c.1027C>T | XP_006723455.1:p.Arg343Trp | |
| XM_006723393.2:c.1027C>T | XP_006723456.1:p.Arg343Trp | |
| XM_011527334.1:c.1027C>T | XP_011525636.1:p.Arg343Trp | |
| XM_011527335.1:c.886C>T | XP_011525637.1:p.Arg296Trp | |
| XM_011527336.1:c.1057C>T | XP_011525638.1:p.Arg353Trp | |
| XM_011527337.1:c.1027C>T | XP_011525639.1:p.Arg343Trp | |
| XM_011527338.1:c.1027C>T | XP_011525640.1:p.Arg343Trp | |
| NM_024876.4:c.1027C>T MANE Select | NP_079152.3:p.Arg343Trp | |
| NM_001142555.3:c.904C>T | NP_001136027.1:p.Arg302Trp |