Linked Data
ClinVar Variation Id:
1138092
ClinVar RCV Id:
RCV001474332
dbSNP Id:
rs1309063391
gnomAD v2:
19-4816287-G-C
gnomAD v3:
19-4816275-G-C
gnomAD v4:
19-4816275-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816275G>C , CM000681.2:g.4816275G>C | GRCh38 |
| NC_000019.9:g.4816287G>C , CM000681.1:g.4816287G>C | GRCh37 |
| NC_000019.8:g.4767287G>C | NCBI36 |
| NG_031998.1:g.20468C>G , LRG_358:g.20468C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2103C>G MANE Select | ENSP00000248244.4:p.Ser701= | |
| ENST00000248244.5:c.2103C>G | ENSP00000248244.4:p.Ser701= | |
| ENST00000621756.1:c.1605C>G | ENSP00000479467.1:p.Ser535= | |
| NM_182919.3:c.2103C>G , LRG_358t1:c.2103C>G | NP_891549.1:p.Ser701= | |
| NM_001385678.1:c.2061C>G | NP_001372607.1:p.Ser687= | |
| NM_001385679.1:c.1968C>G | NP_001372608.1:p.Ser656= | |
| NM_001385680.1:c.1461C>G | NP_001372609.1:p.Ser487= | |
| NM_182919.4:c.2103C>G MANE Select | NP_891549.1:p.Ser701= |