Linked Data
ClinVar Variation Id:
1524335
dbSNP Id:
rs1232383882
gnomAD v2:
16-2096268-T-C
gnomAD v4:
16-2046267-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046267T>C , CM000678.2:g.2046267T>C | GRCh38 |
| NC_000016.9:g.2096268T>C , CM000678.1:g.2096268T>C | GRCh37 |
| NC_000016.8:g.2036269T>C | NCBI36 |
| NG_005895.1:g.1962T>C , LRG_487:g.1962T>C | |
| NG_008412.1:g.6600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.215A>G MANE Select | ENSP00000498421.1:p.Glu72Gly | |
| ENST00000651583.1:c.170A>G | ENSP00000498821.1:p.Glu57Gly | |
| ENST00000219066.5:c.239A>G | ENSP00000219066.1:p.Glu80Gly | |
| ENST00000561841.1:c.135A>G | ||
| ENST00000566380.5:c.178A>G | ||
| ENST00000568513.5:c.173+13A>G | ||
| NM_002528.5:c.239A>G | NP_002519.1:p.Glu80Gly | |
| XM_011522505.1:c.239A>G | XP_011520807.1:p.Glu80Gly | |
| NM_001318193.1:c.239A>G | NP_001305122.1:p.Glu80Gly | |
| NM_001318194.1:c.24+13A>G | NP_001305123.1:n.24+13A>G | |
| NM_002528.6:c.239A>G | NP_002519.1:p.Glu80Gly | |
| XM_017023253.1:c.239A>G | XP_016878742.1:p.Glu80Gly | |
| NM_001318193.2:c.215A>G | NP_001305122.2:p.Glu72Gly | |
| NM_002528.7:c.215A>G MANE Select | NP_002519.2:p.Glu72Gly | |
| NM_001318194.2:c.24+13A>G | NP_001305123.1:n.24+13A>G |