Linked Data
ClinVar Variation Id:
792193
ClinVar RCV Id:
RCV000975280
dbSNP Id:
rs1300131974
gnomAD v2:
X-21958987-C-G
gnomAD v3:
X-21940869-C-G
gnomAD v4:
X-21940869-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21940869C>G , CM000685.2:g.21940869C>G | GRCh38 |
| NC_000023.10:g.21958987C>G , CM000685.1:g.21958987C>G | GRCh37 |
| NC_000023.9:g.21868908C>G | NCBI36 |
| NG_009228.1:g.5146C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404933.7:c.45C>G MANE Select | ENSP00000385746.2:p.Ala15= | |
| ENST00000379404.5:c.45C>G | ENSP00000368714.1:p.Ala15= | |
| ENST00000404933.6:c.45C>G | ENSP00000385746.2:p.Ala15= | |
| ENST00000478094.1:n.92C>G | ||
| NM_001258423.1:c.45C>G | NP_001245352.1:p.Ala15= | |
| NM_004595.4:c.45C>G | NP_004586.2:p.Ala15= | |
| XM_017029753.2:c.45C>G | XP_016885242.1:p.Ala15= | |
| NM_004595.5:c.45C>G MANE Select | NP_004586.2:p.Ala15= | |
| NM_001258423.2:c.45C>G | NP_001245352.1:p.Ala15= |