Linked Data
ClinVar Variation Id:
188985
ClinVar RCV Id:
RCV001386862
dbSNP Id:
rs180177168
gnomAD v3:
2-240868987-G-T
gnomAD v4:
2-240868987-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868987G>T , CM000664.2:g.240868987G>T | GRCh38 |
| NC_000002.11:g.241808404G>T , CM000664.1:g.241808404G>T | GRCh37 |
| NC_000002.10:g.241457077G>T | NCBI36 |
| NG_008005.1:g.5243G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.122G>T MANE Select | ENSP00000302620.3:p.Gly41Val | |
| ENST00000307503.3:c.122G>T | ENSP00000302620.3:p.Gly41Val | |
| ENST00000472436.1:n.142G>T | ||
| NM_000030.2:c.122G>T | NP_000021.1:p.Gly41Val | |
| XR_924060.1:n.405+1246C>A | ||
| NM_000030.3:c.122G>T MANE Select | NP_000021.1:p.Gly41Val |