Linked Data
ClinVar Variation Id:
2445852
ClinVar RCV Id:
RCV003155771
dbSNP Id:
rs989098970
gnomAD v2:
12-103234178-T-C
gnomAD v3:
12-102840400-T-C
gnomAD v4:
12-102840400-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840400T>C , CM000674.2:g.102840400T>C | GRCh38 |
| NC_000012.11:g.103234178T>C , CM000674.1:g.103234178T>C | GRCh37 |
| NC_000012.10:g.101758308T>C | NCBI36 |
| NG_008690.1:g.82203A>G | |
| NG_008690.2:g.123011A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1315A>G MANE Select | ENSP00000448059.1:p.Ser439Gly | |
| ENST00000307000.7:c.1300A>G | ENSP00000303500.2:p.Ser434Gly | |
| ENST00000551114.2:n.977A>G | ||
| ENST00000553106.5:c.1315A>G | ENSP00000448059.1:p.Ser439Gly | |
| ENST00000635477.1:c.419A>G | ||
| ENST00000635528.1:n.830A>G | ||
| NM_000277.1:c.1315A>G | NP_000268.1:p.Ser439Gly | |
| XM_011538422.1:c.1258A>G | XP_011536724.1:p.Ser420Gly | |
| NM_000277.2:c.1315A>G | NP_000268.1:p.Ser439Gly | |
| NM_001354304.1:c.1315A>G | NP_001341233.1:p.Ser439Gly | |
| NM_000277.3:c.1315A>G MANE Select | NP_000268.1:p.Ser439Gly | |
| NM_001354304.2:c.1315A>G | NP_001341233.1:p.Ser439Gly |