Linked Data
ClinVar Variation Id:
1599708
ClinVar RCV Id:
RCV002131988
dbSNP Id:
rs540429850
ExAC:
12:14018873 A / G
gnomAD v2:
12-14018873-A-G
gnomAD v3:
12-13865939-A-G
gnomAD v4:
12-13865939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13865939A>G , CM000674.2:g.13865939A>G | GRCh38 |
| NC_000012.11:g.14018873A>G , CM000674.1:g.14018873A>G | GRCh37 |
| NC_000012.10:g.13910140A>G | NCBI36 |
| NG_031854.1:g.119150T>C | |
| NG_031854.2:g.121074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.270T>C MANE Select | ENSP00000477455.1:p.Ser90= | |
| ENST00000630791.2:c.270T>C | ENSP00000486677.2:p.Ser90= | |
| ENST00000609686.3:c.270T>C | ENSP00000477455.1:p.Ser90= | |
| NM_000834.3:c.270T>C | NP_000825.2:p.Ser90= | |
| XM_011520628.1:c.270T>C | XP_011518930.1:p.Ser90= | |
| XM_011520629.1:c.270T>C | XP_011518931.1:p.Ser90= | |
| XM_011520630.1:c.270T>C | XP_011518932.1:p.Ser90= | |
| NM_000834.4:c.270T>C | NP_000825.2:p.Ser90= | |
| XM_011520628.2:c.270T>C | XP_011518930.1:p.Ser90= | |
| XM_011520629.2:c.270T>C | XP_011518931.1:p.Ser90= | |
| XM_017019219.2:c.270T>C | XP_016874708.1:p.Ser90= | |
| NM_000834.5:c.270T>C MANE Select | NP_000825.2:p.Ser90= |