Linked Data
ClinVar Variation Id:
31865
ClinVar RCV Id:
RCV000024560
RCV000080082
RCV000259493
RCV000263178
RCV000299675
RCV000354576
RCV001129797
dbSNP Id:
rs112562759
ExAC:
19:55658387 T / C
gnomAD v2:
19-55658387-T-C
gnomAD v3:
19-55147019-T-C
gnomAD v4:
19-55147019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55147019T>C , CM000681.2:g.55147019T>C | GRCh38 |
| NC_000019.9:g.55658387T>C , CM000681.1:g.55658387T>C | GRCh37 |
| NC_000019.8:g.60350199T>C | NCBI36 |
| NG_011829.2:g.7220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588981.6:c.35A>G MANE Select | ENSP00000467176.1:p.Glu12Gly | |
| ENST00000291901.12:c.35A>G | ENSP00000291901.8:p.Glu12Gly | |
| ENST00000356783.9:c.35A>G | ENSP00000349233.4:p.Glu12Gly | |
| ENST00000536926.5:c.-132+88A>G | ENSP00000439640.2:n.-132+88A>G | |
| ENST00000586282.1:n.92A>G | ||
| ENST00000587758.5:c.35A>G | ENSP00000467789.1:p.Glu12Gly | |
| ENST00000588147.5:c.35A>G | ENSP00000467299.1:p.Glu12Gly | |
| ENST00000588426.5:c.10A>G | ENSP00000465991.1:p.Ser4Gly | |
| ENST00000588981.5:c.35A>G | ENSP00000467176.1:p.Glu12Gly | |
| ENST00000589226.5:c.35A>G | ENSP00000470854.1:p.Glu12Gly | |
| ENST00000592920.5:n.113A>G | ||
| ENST00000593046.5:c.35A>G | ENSP00000470777.1:p.Glu12Gly | |
| NM_001126132.2:c.35A>G | NP_001119604.1:p.Glu12Gly | |
| NM_001126133.2:c.35A>G | NP_001119605.1:p.Glu12Gly | |
| NM_001291774.1:c.35A>G | NP_001278703.1:p.Glu12Gly | |
| NM_003283.5:c.35A>G | NP_003274.3:p.Glu12Gly | |
| XM_006723343.2:c.35A>G | XP_006723406.1:p.Glu12Gly | |
| XM_011527243.1:c.35A>G | XP_011525545.1:p.Glu12Gly | |
| XM_011527244.1:c.35A>G | XP_011525546.1:p.Glu12Gly | |
| XM_011527245.1:c.35A>G | XP_011525547.1:p.Glu12Gly | |
| XM_011527246.1:c.35A>G | XP_011525548.1:p.Glu12Gly | |
| XM_011527246.3:c.35A>G | XP_011525548.1:p.Glu12Gly | |
| XM_017027186.1:c.35A>G | XP_016882675.1:p.Glu12Gly | |
| XM_017027187.1:c.35A>G | XP_016882676.1:p.Glu12Gly | |
| NM_003283.6:c.35A>G MANE Select | NP_003274.3:p.Glu12Gly | |
| NM_001126132.3:c.35A>G | NP_001119604.1:p.Glu12Gly | |
| NM_001126133.3:c.35A>G | NP_001119605.1:p.Glu12Gly | |
| NM_001291774.2:c.35A>G | NP_001278703.1:p.Glu12Gly |