Linked Data
ClinVar Variation Id:
1100975
ClinVar RCV Id:
RCV001423739
dbSNP Id:
rs1307382807
gnomAD v4:
X-139551162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139551162T>C , CM000685.2:g.139551162T>C | GRCh38 |
| NC_000023.10:g.138633321T>C , CM000685.1:g.138633321T>C | GRCh37 |
| NC_000023.9:g.138460987T>C | NCBI36 |
| NG_007994.1:g.25427T>C , LRG_556:g.25427T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.621T>C MANE Select | ENSP00000218099.2:p.Ala207= | |
| ENST00000643157.1:n.1288T>C | ||
| ENST00000218099.6:c.621T>C | ENSP00000218099.2:p.Ala207= | |
| ENST00000394090.2:c.507T>C | ENSP00000377650.2:p.Ala169= | |
| NM_000133.3:c.621T>C , LRG_556t1:c.621T>C | NP_000124.1:p.Ala207= | |
| NM_001313913.1:c.507T>C | NP_001300842.1:p.Ala169= | |
| XM_005262397.3:c.492T>C | XP_005262454.1:p.Ala164= | |
| XM_005262397.4:c.492T>C | XP_005262454.1:p.Ala164= | |
| NM_000133.4:c.621T>C MANE Select | NP_000124.1:p.Ala207= | |
| NM_001313913.2:c.507T>C | NP_001300842.1:p.Ala169= |