Linked Data
ClinVar Variation Id:
1673063
ClinVar RCV Id:
RCV002213560
dbSNP Id:
rs773788067
ExAC:
19:17940950 C / T
gnomAD v2:
19-17940950-C-T
gnomAD v4:
19-17830141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830141C>T , CM000681.2:g.17830141C>T | GRCh38 |
| NC_000019.9:g.17940950C>T , CM000681.1:g.17940950C>T | GRCh37 |
| NC_000019.8:g.17801950C>T | NCBI36 |
| NG_007273.1:g.22851G>A , LRG_77:g.22851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1731G>A | ENSP00000513006.1:n.*1731G>A | |
| ENST00000696967.1:n.2351G>A | ||
| ENST00000696968.1:n.407G>A | ||
| ENST00000696969.1:n.2131G>A | ||
| ENST00000458235.7:c.3174G>A MANE Select | ENSP00000391676.1:p.Gln1058= | |
| ENST00000458235.5:c.3174G>A | ENSP00000391676.1:p.Gln1058= | |
| ENST00000527031.5:n.2279-4831G>A | ||
| ENST00000527670.5:c.3174G>A | ENSP00000432511.1:p.Gln1058= | |
| ENST00000534444.1:c.3174G>A | ENSP00000436421.1:p.Gln1058= | |
| NM_000215.3:c.3174G>A , LRG_77t1:c.3174G>A | NP_000206.2:p.Gln1058= | |
| XM_005259896.2:c.3303G>A | XP_005259953.1:p.Gln1101= | |
| XM_006722745.2:c.3174G>A | XP_006722808.1:p.Gln1058= | |
| XM_005259896.3:c.3303G>A | XP_005259953.1:p.Gln1101= | |
| NM_000215.4:c.3174G>A MANE Select | NP_000206.2:p.Gln1058= |