Linked Data
ClinVar Variation Id:
330474
ClinVar RCV Id:
RCV000386641
RCV000295430
RCV000348390
RCV003884486
RCV004544600
RCV000882297
RCV001821001
dbSNP Id:
rs9282757
ExAC:
19:7184392 C / T
gnomAD v2:
19-7184392-C-T
gnomAD v3:
19-7184381-C-T
gnomAD v4:
19-7184381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7184381C>T , CM000681.2:g.7184381C>T | GRCh38 |
| NC_000019.9:g.7184392C>T , CM000681.1:g.7184392C>T | GRCh37 |
| NC_000019.8:g.7135392C>T | NCBI36 |
| NG_008852.2:g.114620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.909G>A MANE Select | ENSP00000303830.4:p.Gln303= | |
| ENST00000302850.9:c.909G>A | ENSP00000303830.4:p.Gln303= | |
| ENST00000341500.9:c.909G>A | ENSP00000342838.4:p.Gln303= | |
| ENST00000598216.1:n.884G>A | ||
| NM_000208.2:c.909G>A | NP_000199.2:p.Gln303= | |
| NM_000208.3:c.909G>A | NP_000199.2:p.Gln303= | |
| NM_001079817.1:c.909G>A | NP_001073285.1:p.Gln303= | |
| NM_001079817.2:c.909G>A | NP_001073285.1:p.Gln303= | |
| XM_011527988.1:c.987G>A | XP_011526290.1:p.Gln329= | |
| XM_011527989.1:c.987G>A | XP_011526291.1:p.Gln329= | |
| XM_011527988.2:c.909G>A | XP_011526290.2:p.Gln303= | |
| XM_011527989.3:c.909G>A | XP_011526291.2:p.Gln303= | |
| NM_000208.4:c.909G>A MANE Select | NP_000199.2:p.Gln303= | |
| NM_001079817.3:c.909G>A | NP_001073285.1:p.Gln303= |