Linked Data
ClinVar Variation Id:
2057501
ClinVar RCV Id:
RCV002914876
dbSNP Id:
rs754320381
ExAC:
17:62018567 C / G
gnomAD v2:
17-62018567-C-G
gnomAD v4:
17-63941207-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941207C>G , CM000679.2:g.63941207C>G | GRCh38 |
| NC_000017.10:g.62018567C>G , CM000679.1:g.62018567C>G | GRCh37 |
| NC_000017.9:g.59372299C>G | NCBI36 |
| NG_011699.1:g.36712G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5075G>C MANE Select | ENSP00000396320.1:p.Gly1692Ala | |
| ENST00000578147.5:c.5075G>C | ENSP00000463963.1:p.Gly1692Ala | |
| NM_000334.4:c.5075G>C MANE Select | NP_000325.4:p.Gly1692Ala | |
| XM_005257566.3:c.5075G>C | XP_005257623.1:p.Gly1692Ala |