Linked Data
ClinVar Variation Id:
12213
ClinVar RCV Id:
RCV000012997
dbSNP Id:
rs121964887
gnomAD v4:
20-3083138-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083138C>A , CM000682.2:g.3083138C>A | GRCh38 |
| NC_000020.10:g.3063784C>A , CM000682.1:g.3063784C>A | GRCh37 |
| NC_000020.9:g.3011784C>A | NCBI36 |
| NG_008663.1:g.6587G>T , LRG_715:g.6587G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.161G>T MANE Select | ENSP00000369647.3:p.Gly54Val | |
| NM_000490.4:c.161G>T , LRG_715t1:c.161G>T | NP_000481.2:p.Gly54Val | |
| XM_011529267.1:c.161G>T | XP_011527569.1:p.Gly54Val | |
| XM_011529267.2:c.161G>T | XP_011527569.1:p.Gly54Val | |
| NM_000490.5:c.161G>T MANE Select | NP_000481.2:p.Gly54Val |