Linked Data
ClinVar Variation Id:
293305
dbSNP Id:
rs140992541
gnomAD v2:
1-161274923-G-A
gnomAD v3:
1-161305133-G-A
gnomAD v4:
1-161305133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161305133G>A , CM000663.2:g.161305133G>A | GRCh38 |
| NC_000001.10:g.161274923G>A , CM000663.1:g.161274923G>A | GRCh37 |
| NC_000001.9:g.159541547G>A | NCBI36 |
| NG_008055.1:g.9840C>T , LRG_256:g.9840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533357.5:c.*743C>T MANE Select | ENSP00000432943.1:n.*743C>T | |
| ENST00000672287.2:c.*743C>T | ENSP00000499818.2:n.*743C>T | |
| ENST00000672602.2:c.*551C>T | ENSP00000500814.2:n.*551C>T | |
| ENST00000674861.1:n.1553C>T | ||
| ENST00000463290.5:c.*499C>T | ENSP00000431538.1:n.*499C>T | |
| ENST00000491222.5:c.*743C>T | ENSP00000431441.1:n.*743C>T | |
| ENST00000533357.4:c.*743C>T | ENSP00000432943.1:n.*743C>T | |
| NM_000530.6:c.*743C>T , LRG_256t1:c.*743C>T | NP_000521.2:n.*743C>T | |
| NM_000530.7:c.*743C>T | NP_000521.2:n.*743C>T | |
| NM_001315491.1:c.*551C>T | NP_001302420.1:n.*551C>T | |
| XM_017001321.2:c.676-792C>T | XP_016856810.1:n.676-792C>T | |
| NM_000530.8:c.*743C>T MANE Select | NP_000521.2:n.*743C>T | |
| NM_001315491.2:c.*551C>T | NP_001302420.1:n.*551C>T |