Linked Data
ClinVar Variation Id:
883762
ClinVar RCV Id:
RCV001114445
dbSNP Id:
rs1878730751
gnomAD v4:
13-38886401-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38886401G>T , CM000675.2:g.38886401G>T | GRCh38 |
| NC_000013.10:g.39460538G>T , CM000675.1:g.39460538G>T | GRCh37 |
| NC_000013.9:g.38358538G>T | NCBI36 |
| NG_008125.2:g.204366G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.*5614G>T MANE Select | ENSP00000280481.7:n.*5614G>T | |
| ENST00000280481.8:c.*5614G>T | ENSP00000280481.7:n.*5614G>T | |
| NM_207361.5:c.*5614G>T | NP_997244.4:n.*5614G>T | |
| NM_207361.6:c.*5614G>T MANE Select | NP_997244.4:n.*5614G>T |