Linked Data
ClinVar Variation Id:
3051710
ClinVar RCV Id:
RCV003959640
dbSNP Id:
rs35933628
ExAC:
5:148207234 C / T
gnomAD v2:
5-148207234-C-T
gnomAD v3:
5-148827671-C-T
gnomAD v4:
5-148827671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827671C>T , CM000667.2:g.148827671C>T | GRCh38 |
| NC_000005.9:g.148207234C>T , CM000667.1:g.148207234C>T | GRCh37 |
| NC_000005.8:g.148187427C>T | NCBI36 |
| NG_016421.1:g.6079C>T | |
| NG_016421.2:g.6079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.840C>T MANE Select | ENSP00000305372.4:p.Gly280= | |
| ENST00000305988.5:c.840C>T | ENSP00000305372.4:p.Gly280= | |
| NM_000024.5:c.840C>T | NP_000015.1:p.Gly280= | |
| NM_000024.6:c.840C>T MANE Select | NP_000015.2:p.Gly280= |