Linked Data
ClinVar Variation Id:
2495175
ClinVar RCV Id:
RCV003211405
dbSNP Id:
rs1344742800
gnomAD v2:
17-4925719-G-C
gnomAD v4:
17-5022424-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022424G>C , CM000679.2:g.5022424G>C | GRCh38 |
| NC_000017.10:g.4925719G>C , CM000679.1:g.4925719G>C | GRCh37 |
| NC_000017.9:g.4866443G>C | NCBI36 |
| NG_034137.1:g.29477G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2343G>C MANE Select | ENSP00000320821.5:p.Glu781Asp | |
| ENST00000320785.9:c.2343G>C | ENSP00000320821.5:p.Glu781Asp | |
| NM_006612.5:c.2343G>C | NP_006603.2:p.Glu781Asp | |
| XM_005256424.1:c.2343G>C | XP_005256481.1:p.Glu781Asp | |
| XM_005256424.2:c.2343G>C | XP_005256481.1:p.Glu781Asp | |
| NM_006612.6:c.2343G>C MANE Select | NP_006603.2:p.Glu781Asp |