Linked Data
ClinVar Variation Id:
2057478
ClinVar RCV Id:
RCV002923383
dbSNP Id:
rs766715658
ExAC:
19:47986398 G / A
gnomAD v2:
19-47986398-G-A
gnomAD v3:
19-47483141-G-A
gnomAD v4:
19-47483141-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47483141G>A , CM000681.2:g.47483141G>A | GRCh38 |
| NC_000019.9:g.47986398G>A , CM000681.1:g.47986398G>A | GRCh37 |
| NC_000019.8:g.52678210G>A | NCBI36 |
| NG_034097.1:g.6124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.449+20C>T MANE Select | ENSP00000337850.2:n.449+20C>T | |
| ENST00000338134.7:c.449+20C>T | ENSP00000337850.2:n.449+20C>T | |
| ENST00000594139.5:n.217+20C>T | ||
| ENST00000594208.5:c.*16C>T | ENSP00000470364.1:n.*16C>T | |
| ENST00000595484.5:n.420+20C>T | ||
| ENST00000595554.1:c.281+20C>T | ENSP00000469446.1:n.281+20C>T | |
| ENST00000598699.1:n.289+20C>T | ||
| ENST00000600271.5:c.-272+20C>T | ENSP00000472291.1:n.-272+20C>T | |
| ENST00000602193.5:n.401+20C>T | ||
| NM_001291296.1:c.281+20C>T | NP_001278225.1:n.281+20C>T | |
| NM_007059.3:c.449+20C>T | NP_008990.2:n.449+20C>T | |
| NR_111923.1:n.573C>T | ||
| XM_011526398.1:c.635+20C>T | XP_011524700.1:n.635+20C>T | |
| XM_011526399.1:c.635+20C>T | XP_011524701.1:n.635+20C>T | |
| XM_011526400.1:c.635+20C>T | XP_011524702.1:n.635+20C>T | |
| XM_011526401.1:c.467+20C>T | XP_011524703.1:n.467+20C>T | |
| XM_017026226.1:c.701+20C>T | XP_016881715.1:n.701+20C>T | |
| XM_017026227.1:c.701+20C>T | XP_016881716.1:n.701+20C>T | |
| XM_017026228.1:c.701+20C>T | XP_016881717.1:n.701+20C>T | |
| XM_017026229.1:c.701+20C>T | XP_016881718.1:n.701+20C>T | |
| XM_024451333.1:c.449+20C>T | XP_024307101.1:n.449+20C>T | |
| XR_001753597.1:n.903+20C>T | ||
| NM_007059.4:c.449+20C>T MANE Select | NP_008990.2:n.449+20C>T | |
| NM_001291296.2:c.281+20C>T | NP_001278225.1:n.281+20C>T | |
| NR_111923.2:n.528C>T |