Linked Data
ClinVar Variation Id:
384472
ClinVar RCV Id:
RCV000426993
dbSNP Id:
rs865953916
gnomAD v2:
12-49578892-T-C
gnomAD v4:
12-49185109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185109T>C , CM000674.2:g.49185109T>C | GRCh38 |
| NC_000012.11:g.49578892T>C , CM000674.1:g.49578892T>C | GRCh37 |
| NC_000012.10:g.47865159T>C | NCBI36 |
| NG_008966.1:g.8970A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.1257A>G MANE Select | ENSP00000301071.7:p.Ser419= | |
| ENST00000547939.6:c.1152A>G | ENSP00000450268.2:p.Ser384= | |
| ENST00000550767.6:c.1152A>G | ENSP00000446637.1:p.Ser384= | |
| ENST00000550811.2:n.2290A>G | ||
| ENST00000552924.2:c.1152A>G | ENSP00000448725.2:p.Ser384= | |
| ENST00000679733.1:c.*713A>G | ENSP00000505459.1:n.*713A>G | |
| ENST00000295766.9:c.1257A>G | ENSP00000439020.2:p.Ser419= | |
| ENST00000301071.11:c.1257A>G | ENSP00000301071.7:p.Ser419= | |
| ENST00000550767.5:c.1152A>G | ENSP00000446637.1:p.Ser384= | |
| NM_001270399.1:c.1257A>G | NP_001257328.1:p.Ser419= | |
| NM_001270400.1:c.1152A>G | NP_001257329.1:p.Ser384= | |
| NM_006009.3:c.1257A>G | NP_006000.2:p.Ser419= | |
| NM_006009.4:c.1257A>G MANE Select | NP_006000.2:p.Ser419= | |
| NM_001270399.2:c.1257A>G | NP_001257328.1:p.Ser419= | |
| NM_001270400.2:c.1152A>G | NP_001257329.1:p.Ser384= |