Linked Data
dbSNP Id:
rs1764690668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669120G>A , CM000668.2:g.33669120G>A | GRCh38 |
| NC_000006.11:g.33636897G>A , CM000668.1:g.33636897G>A | GRCh37 |
| NC_000006.10:g.33744875G>A | NCBI36 |
| NG_027729.1:g.52742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2153G>A MANE Select | ENSP00000475177.1:p.Gly718Asp | |
| ENST00000374316.9:c.2153G>A | ENSP00000363435.4:p.Gly718Asp | |
| ENST00000605930.2:c.2153G>A | ENSP00000475177.1:p.Gly718Asp | |
| NM_002224.3:c.2153G>A | NP_002215.2:p.Gly718Asp | |
| XM_011514576.1:c.2222G>A | XP_011512878.1:p.Gly741Asp | |
| XM_011514577.1:c.1970G>A | XP_011512879.1:p.Gly657Asp | |
| XM_011514577.3:c.1970G>A | XP_011512879.1:p.Gly657Asp | |
| XM_017010832.1:c.2153G>A | XP_016866321.1:p.Gly718Asp | |
| NM_002224.4:c.2153G>A MANE Select | NP_002215.2:p.Gly718Asp |