Linked Data
ClinVar Variation Id:
968173
ClinVar RCV Id:
RCV001243248
dbSNP Id:
rs1462850727
gnomAD v2:
4-996521-T-G
gnomAD v3:
4-1002733-T-G
gnomAD v4:
4-1002733-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002733T>G , CM000666.2:g.1002733T>G | GRCh38 |
| NC_000004.11:g.996521T>G , CM000666.1:g.996521T>G | GRCh37 |
| NC_000004.10:g.986521T>G | NCBI36 |
| NG_008103.1:g.20737T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1191T>G | ENSP00000247933.4:p.Asp397Glu | |
| ENST00000514224.2:c.1191T>G MANE Select | ENSP00000425081.2:p.Asp397Glu | |
| ENST00000652070.1:n.1247T>G | ||
| ENST00000247933.8:c.1191T>G | ENSP00000247933.4:p.Asp397Glu | |
| ENST00000514224.1:c.795T>G | ENSP00000425081.1:p.Asp265Glu | |
| ENST00000514698.5:n.1298T>G | ||
| NM_000203.4:c.1191T>G | NP_000194.2:p.Asp397Glu | |
| NR_110313.1:n.1279T>G | ||
| XM_006713882.2:c.795T>G | XP_006713945.1:p.Asp265Glu | |
| XM_011513459.1:c.1257T>G | XP_011511761.1:p.Asp419Glu | |
| XM_011513460.1:c.1050T>G | XP_011511762.1:p.Asp350Glu | |
| XM_011513461.1:c.984T>G | XP_011511763.1:p.Asp328Glu | |
| XM_011513462.1:c.903T>G | XP_011511764.1:p.Asp301Glu | |
| XM_011513463.1:c.903T>G | XP_011511765.1:p.Asp301Glu | |
| XR_924947.1:n.1260T>G | ||
| NM_000203.5:c.1191T>G MANE Select | NP_000194.2:p.Asp397Glu | |
| NM_001363576.1:c.795T>G | NP_001350505.1:p.Asp265Glu | |
| XM_011513461.2:c.984T>G | XP_011511763.1:p.Asp328Glu | |
| XM_017008163.1:c.231T>G | XP_016863652.1:p.Asp77Glu |