Linked Data
ClinVar Variation Id:
719612
ClinVar RCV Id:
RCV000892791
dbSNP Id:
rs138560456
ExAC:
16:17232374 C / T
gnomAD v2:
16-17232374-C-T
gnomAD v3:
16-17138517-C-T
gnomAD v4:
16-17138517-C-T
COSMIC:
COSM460599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138517C>T , CM000678.2:g.17138517C>T | GRCh38 |
| NC_000016.9:g.17232374C>T , CM000678.1:g.17232374C>T | GRCh37 |
| NC_000016.8:g.17139875C>T | NCBI36 |
| NG_015843.1:g.337365G>A | |
| NG_015843.2:g.337365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1602G>A MANE Select | ENSP00000261381.6:p.Thr534= | |
| ENST00000261381.6:c.1602G>A | ENSP00000261381.6:p.Thr534= | |
| NM_022166.3:c.1602G>A | NP_071449.1:p.Thr534= | |
| XM_011522574.1:c.1602G>A | XP_011520876.1:p.Thr534= | |
| XR_933141.1:n.450C>T | ||
| NR_135179.1:n.422C>T | ||
| XM_017023539.2:c.1602G>A | XP_016879028.1:p.Thr534= | |
| XM_017023540.2:c.1602G>A | XP_016879029.1:p.Thr534= | |
| NM_022166.4:c.1602G>A MANE Select | NP_071449.1:p.Thr534= |