Linked Data
ClinVar Variation Id:
1279819
ClinVar RCV Id:
RCV001693392
dbSNP Id:
rs3800373
gnomAD v2:
6-35542476-C-A
gnomAD v3:
6-35574699-C-A
gnomAD v4:
6-35574699-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35574699C>A , CM000668.2:g.35574699C>A | GRCh38 |
| NC_000006.11:g.35542476C>A , CM000668.1:g.35542476C>A | GRCh37 |
| NC_000006.10:g.35650454C>A | NCBI36 |
| NG_012645.2:g.158885G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357266.9:c.*1136G>T MANE Select | ENSP00000349811.3:n.*1136G>T | |
| ENST00000357266.8:c.*1136G>T | ENSP00000349811.3:n.*1136G>T | |
| ENST00000536438.5:c.*1136G>T | ENSP00000444810.1:n.*1136G>T | |
| ENST00000539068.5:c.*1136G>T | ENSP00000441205.1:n.*1136G>T | |
| NM_001145775.2:c.*1136G>T | NP_001139247.1:n.*1136G>T | |
| NM_001145776.1:c.*1136G>T | NP_001139248.1:n.*1136G>T | |
| NM_004117.3:c.*1136G>T | NP_004108.1:n.*1136G>T | |
| XR_242006.2:n.433-18331C>A | ||
| XR_242006.3:n.462-18331C>A | ||
| NM_001145775.3:c.*1136G>T | NP_001139247.1:n.*1136G>T | |
| NM_001145776.2:c.*1136G>T | NP_001139248.1:n.*1136G>T | |
| NM_004117.4:c.*1136G>T MANE Select | NP_004108.1:n.*1136G>T |