Linked Data
ClinVar Variation Id:
474878
ClinVar RCV Id:
RCV001591287
dbSNP Id:
rs904631654
gnomAD v2:
17-7127000-G-C
gnomAD v3:
17-7223681-G-C
gnomAD v4:
17-7223681-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223681G>C , CM000679.2:g.7223681G>C | GRCh38 |
| NC_000017.10:g.7127000G>C , CM000679.1:g.7127000G>C | GRCh37 |
| NC_000017.9:g.7067724G>C | NCBI36 |
| NG_007975.1:g.8848G>C | |
| NG_008391.2:g.1370C>G | |
| NG_033038.1:g.15864C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1220G>C MANE Select | ENSP00000349297.5:p.Gly407Ala | |
| ENST00000322910.9:c.*1175G>C | ENSP00000325395.5:n.*1175G>C | |
| ENST00000350303.9:c.1154G>C | ENSP00000344152.5:p.Gly385Ala | |
| ENST00000356839.9:c.1220G>C | ENSP00000349297.5:p.Gly407Ala | |
| ENST00000542255.6:c.78G>C | ||
| ENST00000543245.6:c.1289G>C | ENSP00000438689.2:p.Gly430Ala | |
| ENST00000578579.2:n.391G>C | ||
| ENST00000578711.1:n.177G>C | ||
| ENST00000578824.5:n.636G>C | ||
| ENST00000579425.5:n.244G>C | ||
| ENST00000579546.1:c.57G>C | ||
| ENST00000583858.5:c.249G>C | ||
| ENST00000585203.6:n.428G>C | ||
| NM_000018.3:c.1220G>C | NP_000009.1:p.Gly407Ala | |
| NM_001033859.2:c.1154G>C | NP_001029031.1:p.Gly385Ala | |
| NM_001270447.1:c.1289G>C | NP_001257376.1:p.Gly430Ala | |
| NM_001270448.1:c.992G>C | NP_001257377.1:p.Gly331Ala | |
| XM_006721516.2:c.1220G>C | XP_006721579.2:p.Gly407Ala | |
| XM_011523829.1:c.1220G>C | XP_011522131.1:p.Gly407Ala | |
| XM_011523830.1:c.1220G>C | XP_011522132.1:p.Gly407Ala | |
| XR_934021.1:n.1327G>C | ||
| XR_934022.1:n.1327G>C | ||
| XR_934023.1:n.1327G>C | ||
| XM_006721516.3:c.1220G>C | XP_006721579.2:p.Gly407Ala | |
| XM_011523829.2:c.1220G>C | XP_011522131.1:p.Gly407Ala | |
| XM_011523830.2:c.1220G>C | XP_011522132.1:p.Gly407Ala | |
| XM_024450741.1:c.1220G>C | XP_024306509.1:p.Gly407Ala | |
| XR_934021.2:n.1279G>C | ||
| XR_934022.2:n.1279G>C | ||
| XR_934023.2:n.1279G>C | ||
| NM_000018.4:c.1220G>C MANE Select | NP_000009.1:p.Gly407Ala | |
| NM_001033859.3:c.1154G>C | NP_001029031.1:p.Gly385Ala | |
| NM_001270447.2:c.1289G>C | NP_001257376.1:p.Gly430Ala | |
| NM_001270448.2:c.992G>C | NP_001257377.1:p.Gly331Ala |