Linked Data
dbSNP Id:
rs199796213
gnomAD v2:
11-100922274-G-T
gnomAD v3:
11-101051543-G-T
gnomAD v4:
11-101051543-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101051543G>T , CM000673.2:g.101051543G>T | GRCh38 |
| NC_000011.9:g.100922274G>T , CM000673.1:g.100922274G>T | GRCh37 |
| NC_000011.8:g.100427484G>T | NCBI36 |
| NG_016475.1:g.83271C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.2238C>A MANE Select | ENSP00000325120.5:p.Asp746Glu | |
| ENST00000263463.9:c.1932C>A | ENSP00000263463.5:p.Asp644Glu | |
| ENST00000325455.9:c.2238C>A | ENSP00000325120.5:p.Asp746Glu | |
| ENST00000526300.5:c.1932C>A | ENSP00000436803.1:p.Asp644Glu | |
| ENST00000528960.5:c.2121C>A | ENSP00000432914.1:p.Asp707Glu | |
| ENST00000533207.5:n.1605C>A | ||
| ENST00000534013.5:c.456C>A | ENSP00000436561.1:p.Asp152Glu | |
| ENST00000534780.5:c.2238C>A | ENSP00000432352.1:p.Asp746Glu | |
| ENST00000617858.4:c.1932C>A | ENSP00000481227.1:p.Asp644Glu | |
| ENST00000619228.2:c.2121C>A | ENSP00000482698.1:p.Asp707Glu | |
| NM_000926.4:c.2238C>A MANE Select | NP_000917.3:p.Asp746Glu | |
| NM_001202474.3:c.1746C>A | NP_001189403.1:p.Asp582Glu | |
| NM_001271161.2:c.1440C>A | NP_001258090.1:p.Asp480Glu | |
| NM_001271162.1:c.456C>A | NP_001258091.1:p.Asp152Glu | |
| NR_073141.2:n.2231C>A | ||
| NR_073142.2:n.2114C>A | ||
| NR_073143.2:n.1925C>A | ||
| XM_006718858.2:c.2238C>A | XP_006718921.1:p.Asp746Glu | |
| XR_947831.1:n.3919C>A | ||
| XM_006718858.3:c.2238C>A | XP_006718921.1:p.Asp746Glu | |
| NM_001271162.2:c.456C>A | NP_001258091.1:p.Asp152Glu | |
| NR_073141.3:n.2245C>A | ||
| NR_073142.3:n.2128C>A | ||
| NR_073143.3:n.1939C>A |