Linked Data
ClinVar Variation Id:
497476
ClinVar RCV Id:
RCV000596293
RCV000862389
RCV001140040
RCV001140041
RCV001573913
RCV002530988
RCV004530659
dbSNP Id:
rs147545395
ExAC:
20:10394096 T / C
gnomAD v2:
20-10394096-T-C
gnomAD v3:
20-10413448-T-C
gnomAD v4:
20-10413448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413448T>C , CM000682.2:g.10413448T>C | GRCh38 |
| NC_000020.10:g.10394096T>C , CM000682.1:g.10394096T>C | GRCh37 |
| NC_000020.9:g.10342096T>C | NCBI36 |
| NG_009109.1:g.25771A>G | |
| NG_009109.2:g.25771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.67A>G | ENSP00000498849.1:p.Arg23Gly | |
| ENST00000652676.1:n.458+348A>G | ||
| ENST00000347364.7:c.67A>G MANE Select | ENSP00000246062.4:p.Arg23Gly | |
| ENST00000399054.6:c.67A>G | ENSP00000382008.2:p.Arg23Gly | |
| NM_018848.3:c.67A>G | NP_061336.1:p.Arg23Gly | |
| NM_170784.2:c.67A>G | NP_740754.1:p.Arg23Gly | |
| NR_072977.1:n.364-4645A>G | ||
| NR_072977.2:n.347-4645A>G | ||
| NM_170784.3:c.67A>G MANE Select | NP_740754.1:p.Arg23Gly |