Linked Data
dbSNP Id:
rs1768024035
gnomAD v3:
6-39048912-C-T
gnomAD v4:
6-39048912-C-T
MyVariant Identifiers:
chr6:g.39016688C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39048912C>T , CM000668.2:g.39048912C>T | GRCh38 |
| NC_000006.11:g.39016688C>T , CM000668.1:g.39016688C>T | GRCh37 |
| NC_000006.10:g.39124666C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.72C>T MANE Select | ENSP00000362353.4:p.Arg24= | |
| ENST00000373256.4:c.72C>T | ENSP00000362353.4:p.Arg24= | |
| NM_002062.3:c.72C>T | NP_002053.3:p.Arg24= | |
| XR_926153.1:n.132C>T | ||
| XR_926154.1:n.132C>T | ||
| XR_926155.1:n.132C>T | ||
| NM_002062.4:c.72C>T | NP_002053.3:p.Arg24= | |
| NR_136562.1:n.132C>T | ||
| NR_136563.1:n.132C>T | ||
| NM_002062.5:c.72C>T MANE Select | NP_002053.3:p.Arg24= | |
| NR_136562.2:n.132C>T | ||
| NR_136563.2:n.132C>T |