Linked Data
ClinVar Variation Id:
311403
ClinVar RCV Id:
RCV000299493
dbSNP Id:
rs567350418
gnomAD v2:
13-22245275-G-T
gnomAD v3:
13-21671136-G-T
gnomAD v4:
13-21671136-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21671136G>T , CM000675.2:g.21671136G>T | GRCh38 |
| NC_000013.10:g.22245275G>T , CM000675.1:g.22245275G>T | GRCh37 |
| NC_000013.9:g.21143275G>T | NCBI36 |
| NG_016272.1:g.5061G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.-777G>T MANE Select | ENSP00000371790.5:n.-777G>T | |
| NM_002010.2:c.-777G>T | NP_002001.1:n.-777G>T | |
| NM_002010.3:c.-777G>T MANE Select | NP_002001.1:n.-777G>T |