Linked Data
dbSNP Id:
rs771787159
ExAC:
3:93593140 A / G
gnomAD v2:
3-93593140-A-G
gnomAD v4:
3-93874296-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874296A>G , CM000665.2:g.93874296A>G | GRCh38 |
| NC_000003.11:g.93593140A>G , CM000665.1:g.93593140A>G | GRCh37 |
| NC_000003.10:g.95075830A>G | NCBI36 |
| NG_009813.1:g.104795T>C , LRG_572:g.104795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1980T>C | ENSP00000330021.7:p.Asp660= | |
| ENST00000394236.9:c.1980T>C MANE Select | ENSP00000377783.3:p.Asp660= | |
| ENST00000407433.6:c.1935T>C | ENSP00000385794.2:p.Asp645= | |
| ENST00000647936.1:c.*83T>C | ENSP00000496822.1:n.*83T>C | |
| ENST00000648381.1:n.2148T>C | ||
| ENST00000648853.1:c.1938T>C | ENSP00000497262.1:p.Asp646= | |
| ENST00000650591.1:c.2076T>C | ENSP00000497376.1:p.Asp692= | |
| ENST00000394236.7:c.1980T>C | ENSP00000377783.3:p.Asp660= | |
| ENST00000407433.5:c.1587T>C | ENSP00000385794.1:p.Asp529= | |
| NM_000313.3:c.1980T>C , LRG_572t1:c.1980T>C | NP_000304.2:p.Asp660= | |
| NM_001314077.1:c.2076T>C , LRG_572t2:c.2076T>C | NP_001301006.1:p.Asp692= | |
| NM_000313.4:c.1980T>C MANE Select | NP_000304.2:p.Asp660= | |
| NM_001314077.2:c.2076T>C | NP_001301006.1:p.Asp692= |