Linked Data
ClinVar Variation Id:
1380713
ClinVar RCV Id:
RCV001886438
dbSNP Id:
rs2135104151
gnomAD v4:
10-110812406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812406G>A , CM000672.2:g.110812406G>A | GRCh38 |
| NC_000010.10:g.112572164G>A , CM000672.1:g.112572164G>A | GRCh37 |
| NC_000010.9:g.112562154G>A | NCBI36 |
| NG_021177.1:g.173010G>A , LRG_382:g.173010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2009G>A MANE Select | ENSP00000358532.3:p.Gly670Asp | |
| ENST00000369519.3:c.2009G>A | ENSP00000358532.3:p.Gly670Asp | |
| NM_001134363.2:c.2009G>A | NP_001127835.2:p.Gly670Asp | |
| XM_011539697.1:c.1625G>A | XP_011537999.1:p.Gly542Asp | |
| XM_017016103.2:c.1844G>A | XP_016871592.1:p.Gly615Asp | |
| XM_017016104.2:c.1625G>A | XP_016871593.1:p.Gly542Asp | |
| NM_001134363.3:c.2009G>A MANE Select | NP_001127835.2:p.Gly670Asp |