Linked Data
ClinVar Variation Id:
2516801
ClinVar RCV Id:
RCV003254698
dbSNP Id:
rs774721494
ExAC:
3:119133180 G / A
gnomAD v2:
3-119133180-G-A
gnomAD v3:
3-119414333-G-A
gnomAD v4:
3-119414333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414333G>A , CM000665.2:g.119414333G>A | GRCh38 |
| NC_000003.11:g.119133180G>A , CM000665.1:g.119133180G>A | GRCh37 |
| NC_000003.10:g.120615870G>A | NCBI36 |
| NG_007665.2:g.124961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2404G>A MANE Select | ENSP00000264245.4:p.Gly802Ser | |
| ENST00000264245.8:c.2404G>A | ENSP00000264245.4:p.Gly802Ser | |
| NM_020754.3:c.2404G>A | NP_065805.2:p.Gly802Ser | |
| XM_005247671.3:c.2311G>A | XP_005247728.1:p.Gly771Ser | |
| XM_006713714.2:c.2344G>A | XP_006713777.1:p.Gly782Ser | |
| XM_006713714.3:c.2344G>A | XP_006713777.1:p.Gly782Ser | |
| XM_017006955.1:c.1912G>A | XP_016862444.1:p.Gly638Ser | |
| NM_020754.4:c.2404G>A MANE Select | NP_065805.2:p.Gly802Ser |