Linked Data
ClinVar Variation Id:
1416918
dbSNP Id:
rs2040903643
gnomAD v3:
19-4095412-T-G
gnomAD v4:
19-4095412-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095412T>G , CM000681.2:g.4095412T>G | GRCh38 |
| NC_000019.9:g.4095410T>G , CM000681.1:g.4095410T>G | GRCh37 |
| NC_000019.8:g.4046410T>G | NCBI36 |
| NG_007996.1:g.33717A>C , LRG_750:g.33717A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1461A>C | ||
| ENST00000688002.1:n.3173A>C | ||
| ENST00000688751.1:n.158A>C | ||
| ENST00000689792.1:n.926A>C | ||
| ENST00000262948.10:c.1022A>C MANE Select | ENSP00000262948.4:p.Asp341Ala | |
| ENST00000262948.9:c.1022A>C | ENSP00000262948.3:p.Asp341Ala | |
| ENST00000394867.8:c.731A>C | ENSP00000378336.1:p.Asp244Ala | |
| ENST00000595715.1:n.837A>C | ||
| ENST00000597263.5:n.207A>C | ||
| ENST00000599021.1:c.132A>C | ||
| ENST00000600584.5:n.1582A>C | ||
| ENST00000601786.5:n.1323A>C | ||
| NM_030662.3:c.1022A>C , LRG_750t1:c.1022A>C | NP_109587.1:p.Asp341Ala | |
| XM_006722799.2:c.743A>C | XP_006722862.1:p.Asp248Ala | |
| XM_011528133.1:c.452A>C | XP_011526435.1:p.Asp151Ala | |
| XM_017026989.1:c.1022A>C | XP_016882478.1:p.Asp341Ala | |
| XM_017026990.1:c.743A>C | XP_016882479.1:p.Asp248Ala | |
| NM_030662.4:c.1022A>C MANE Select | NP_109587.1:p.Asp341Ala |