Linked Data
ClinVar Variation Id:
554590
dbSNP Id:
rs1430681871
gnomAD v3:
4-1001712-G-A
gnomAD v4:
4-1001712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001712G>A , CM000666.2:g.1001712G>A | GRCh38 |
| NC_000004.11:g.995500G>A , CM000666.1:g.995500G>A | GRCh37 |
| NC_000004.10:g.985500G>A | NCBI36 |
| NG_008103.1:g.19716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.623G>A | ENSP00000247933.4:p.Gly208Asp | |
| ENST00000514224.2:c.623G>A MANE Select | ENSP00000425081.2:p.Gly208Asp | |
| ENST00000652070.1:n.679G>A | ||
| ENST00000247933.8:c.623G>A | ENSP00000247933.4:p.Gly208Asp | |
| ENST00000502910.5:c.482G>A | ENSP00000422952.1:p.Gly161Asp | |
| ENST00000504568.5:c.583G>A | ||
| ENST00000509948.5:c.416G>A | ENSP00000424227.1:p.Gly139Asp | |
| ENST00000514192.5:c.440G>A | ENSP00000423685.1:p.Gly147Asp | |
| ENST00000514224.1:c.227G>A | ENSP00000425081.1:p.Gly76Asp | |
| ENST00000514698.5:n.523G>A | ||
| NM_000203.4:c.623G>A | NP_000194.2:p.Gly208Asp | |
| NR_110313.1:n.711G>A | ||
| XM_006713882.2:c.227G>A | XP_006713945.1:p.Gly76Asp | |
| XM_011513459.1:c.482G>A | XP_011511761.1:p.Gly161Asp | |
| XM_011513460.1:c.482G>A | XP_011511762.1:p.Gly161Asp | |
| XM_011513461.1:c.416G>A | XP_011511763.1:p.Gly139Asp | |
| XM_011513462.1:c.335G>A | XP_011511764.1:p.Gly112Asp | |
| XM_011513463.1:c.335G>A | XP_011511765.1:p.Gly112Asp | |
| XR_924947.1:n.692G>A | ||
| NM_000203.5:c.623G>A MANE Select | NP_000194.2:p.Gly208Asp | |
| NM_001363576.1:c.227G>A | NP_001350505.1:p.Gly76Asp | |
| XM_011513461.2:c.416G>A | XP_011511763.1:p.Gly139Asp | |
| XM_017008163.1:c.-338G>A | XP_016863652.1:n.-338G>A |