Linked Data
ClinVar Variation Id:
255847
ClinVar RCV Id:
RCV000241827
RCV000262834
RCV000287379
RCV000322477
RCV000443497
RCV000377076
RCV001082530
dbSNP Id:
rs117664682
ExAC:
17:62028915 C / T
gnomAD v2:
17-62028915-C-T
gnomAD v3:
17-63951555-C-T
gnomAD v4:
17-63951555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63951555C>T , CM000679.2:g.63951555C>T | GRCh38 |
| NC_000017.10:g.62028915C>T , CM000679.1:g.62028915C>T | GRCh37 |
| NC_000017.9:g.59382647C>T | NCBI36 |
| NG_011699.1:g.26364G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2722G>A MANE Select | ENSP00000396320.1:p.Glu908Lys | |
| ENST00000578147.5:c.2722G>A | ENSP00000463963.1:p.Glu908Lys | |
| NM_000334.4:c.2722G>A MANE Select | NP_000325.4:p.Glu908Lys | |
| XM_005257566.3:c.2722G>A | XP_005257623.1:p.Glu908Lys |