Linked Data
ClinVar Variation Id:
2891706
ClinVar RCV Id:
RCV003725079
dbSNP Id:
rs1206267242
gnomAD v2:
3-48612963-C-T
gnomAD v3:
3-48575530-C-T
gnomAD v4:
3-48575530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48575530C>T , CM000665.2:g.48575530C>T | GRCh38 |
| NC_000003.11:g.48612963C>T , CM000665.1:g.48612963C>T | GRCh37 |
| NC_000003.10:g.48587967C>T | NCBI36 |
| NG_007065.1:g.24723G>A , LRG_286:g.24723G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.5989G>A MANE Select | ENSP00000506558.1:p.Gly1997Ser | |
| ENST00000328333.12:c.5989G>A | ENSP00000332371.8:p.Gly1997Ser | |
| ENST00000487017.5:n.1906G>A | ||
| NM_000094.3:c.5989G>A , LRG_286t1:c.5989G>A | NP_000085.1:p.Gly1997Ser | |
| XM_011533336.1:c.6016G>A | XP_011531638.1:p.Gly2006Ser | |
| XM_011533337.1:c.5989G>A | XP_011531639.1:p.Gly1997Ser | |
| XM_011533338.1:c.6016G>A | XP_011531640.1:p.Gly2006Ser | |
| XM_011533339.1:c.6016G>A | XP_011531641.1:p.Gly2006Ser | |
| XM_011533340.1:c.6016G>A | XP_011531642.1:p.Gly2006Ser | |
| XM_011533341.1:c.6016G>A | XP_011531643.1:p.Gly2006Ser | |
| XM_011533342.1:c.6016G>A | XP_011531644.1:p.Gly2006Ser | |
| XR_940369.1:n.6052G>A | ||
| XR_940370.1:n.6052G>A | ||
| XR_940371.1:n.6052G>A | ||
| XR_940372.1:n.6052G>A | ||
| XR_940373.1:n.6052G>A | ||
| XR_940374.1:n.6052G>A | ||
| XR_940375.1:n.6052G>A | ||
| XM_017005688.1:c.5989G>A | XP_016861177.1:p.Gly1997Ser | |
| XM_017005689.1:c.5989G>A | XP_016861178.1:p.Gly1997Ser | |
| XM_017005690.1:c.5989G>A | XP_016861179.1:p.Gly1997Ser | |
| XM_017005691.1:c.5989G>A | XP_016861180.1:p.Gly1997Ser | |
| XM_017005692.1:c.5989G>A | XP_016861181.1:p.Gly1997Ser | |
| XR_001740003.1:n.6025G>A | ||
| XR_001740004.1:n.6025G>A | ||
| XR_001740005.1:n.6025G>A | ||
| XR_001740006.1:n.6025G>A | ||
| XR_001740007.1:n.6025G>A | ||
| XR_001740008.1:n.6025G>A | ||
| XR_001740009.1:n.6025G>A | ||
| NM_000094.4:c.5989G>A MANE Select | NP_000085.1:p.Gly1997Ser |