Linked Data
ClinVar Variation Id:
946964
ClinVar RCV Id:
RCV001217931
dbSNP Id:
rs768251194
ExAC:
17:62018336 T / G
gnomAD v2:
17-62018336-T-G
gnomAD v4:
17-63940976-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63940976T>G , CM000679.2:g.63940976T>G | GRCh38 |
| NC_000017.10:g.62018336T>G , CM000679.1:g.62018336T>G | GRCh37 |
| NC_000017.9:g.59372068T>G | NCBI36 |
| NG_011699.1:g.36943A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5306A>C MANE Select | ENSP00000396320.1:p.Glu1769Ala | |
| ENST00000578147.5:c.5306A>C | ENSP00000463963.1:p.Glu1769Ala | |
| NM_000334.4:c.5306A>C MANE Select | NP_000325.4:p.Glu1769Ala | |
| XM_005257566.3:c.5306A>C | XP_005257623.1:p.Glu1769Ala |