Linked Data
ClinVar Variation Id:
2842720
ClinVar RCV Id:
RCV003616664
dbSNP Id:
rs767983434
ExAC:
17:62018827 T / A
gnomAD v2:
17-62018827-T-A
gnomAD v4:
17-63941467-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941467T>A , CM000679.2:g.63941467T>A | GRCh38 |
| NC_000017.10:g.62018827T>A , CM000679.1:g.62018827T>A | GRCh37 |
| NC_000017.9:g.59372559T>A | NCBI36 |
| NG_011699.1:g.36452A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4815A>T MANE Select | ENSP00000396320.1:p.Thr1605= | |
| ENST00000578147.5:c.4815A>T | ENSP00000463963.1:p.Thr1605= | |
| NM_000334.4:c.4815A>T MANE Select | NP_000325.4:p.Thr1605= | |
| XM_005257566.3:c.4815A>T | XP_005257623.1:p.Thr1605= |