Linked Data
ClinVar Variation Id:
1639404
ClinVar RCV Id:
RCV002129024
dbSNP Id:
rs1170342046
gnomAD v2:
5-60628429-C-T
gnomAD v4:
5-61332602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332602C>T , CM000667.2:g.61332602C>T | GRCh38 |
| NC_000005.9:g.60628429C>T , CM000667.1:g.60628429C>T | GRCh37 |
| NC_000005.8:g.60664186C>T | NCBI36 |
| NG_053150.1:g.5330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.330C>T MANE Select | ENSP00000252744.5:p.Val110= | |
| ENST00000252744.5:c.330C>T | ENSP00000252744.5:p.Val110= | |
| NM_020928.1:c.330C>T | NP_065979.1:p.Val110= | |
| NM_020928.2:c.330C>T MANE Select | NP_065979.1:p.Val110= |