Linked Data
ClinVar Variation Id:
1959168
ClinVar RCV Id:
RCV002701149
dbSNP Id:
rs1202048224
gnomAD v4:
1-161306778-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306778A>G , CM000663.2:g.161306778A>G | GRCh38 |
| NC_000001.10:g.161276568A>G , CM000663.1:g.161276568A>G | GRCh37 |
| NC_000001.9:g.159543192A>G | NCBI36 |
| NG_008055.1:g.8195T>C , LRG_256:g.8195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+11T>C | ENSP00000488104.2:n.367+11T>C | |
| ENST00000533357.5:c.378T>C MANE Select | ENSP00000432943.1:p.Thr126= | |
| ENST00000672287.2:c.-211T>C | ENSP00000499818.2:n.-211T>C | |
| ENST00000672602.2:c.378T>C | ENSP00000500814.2:p.Thr126= | |
| ENST00000674861.1:n.441T>C | ||
| ENST00000463290.5:c.378T>C | ENSP00000431538.1:p.Thr126= | |
| ENST00000491222.5:c.-211T>C | ENSP00000431441.1:n.-211T>C | |
| ENST00000526189.2:c.111+11T>C | ||
| ENST00000533357.4:c.378T>C | ENSP00000432943.1:p.Thr126= | |
| NM_000530.6:c.378T>C , LRG_256t1:c.378T>C | NP_000521.2:p.Thr126= | |
| NM_000530.7:c.378T>C | NP_000521.2:p.Thr126= | |
| NM_001315491.1:c.378T>C | NP_001302420.1:p.Thr126= | |
| XM_017001321.2:c.408T>C | XP_016856810.1:p.Thr136= | |
| NM_000530.8:c.378T>C MANE Select | NP_000521.2:p.Thr126= | |
| NM_001315491.2:c.378T>C | NP_001302420.1:p.Thr126= |