Linked Data
ClinVar Variation Id:
1088200
ClinVar RCV Id:
RCV001406602
dbSNP Id:
rs186864802
gnomAD v2:
12-109994854-C-G
gnomAD v3:
12-109557049-C-G
gnomAD v4:
12-109557049-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557049C>G , CM000674.2:g.109557049C>G | GRCh38 |
| NC_000012.11:g.109994854C>G , CM000674.1:g.109994854C>G | GRCh37 |
| NC_000012.10:g.108479237C>G | NCBI36 |
| NG_007096.1:g.21449G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.732G>C MANE Select | ENSP00000445920.1:p.Ser244= | |
| ENST00000537496.5:c.*297G>C | ENSP00000444793.1:n.*297G>C | |
| ENST00000540016.5:c.576G>C | ENSP00000474582.1:p.Ser192= | |
| ENST00000541763.6:c.957G>C | ENSP00000474981.1:n.957G>C | |
| ENST00000544051.5:c.*613G>C | ENSP00000438079.1:n.*613G>C | |
| ENST00000545712.6:c.732G>C | ENSP00000445920.1:p.Ser244= | |
| NM_052845.3:c.732G>C | NP_443077.1:p.Ser244= | |
| NR_038118.1:n.892G>C | ||
| XM_011538266.1:c.*79G>C | XP_011536568.1:n.*79G>C | |
| XM_011538267.1:c.*79G>C | XP_011536569.1:n.*79G>C | |
| XM_011538268.1:c.459G>C | XP_011536570.1:p.Ser153= | |
| XM_011538269.1:c.456G>C | XP_011536571.1:p.Ser152= | |
| XM_011538267.3:c.*79G>C | XP_011536569.1:n.*79G>C | |
| XM_011538268.2:c.459G>C | XP_011536570.1:p.Ser153= | |
| XM_011538269.2:c.456G>C | XP_011536571.1:p.Ser152= | |
| NM_052845.4:c.732G>C MANE Select | NP_443077.1:p.Ser244= | |
| NR_038118.2:n.843G>C |