Linked Data
ClinVar Variation Id:
372343
ClinVar RCV Id:
RCV000413184
dbSNP Id:
rs1057517726
gnomAD v4:
3-48575343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48575343T>C , CM000665.2:g.48575343T>C | GRCh38 |
| NC_000003.11:g.48612776T>C , CM000665.1:g.48612776T>C | GRCh37 |
| NC_000003.10:g.48587780T>C | NCBI36 |
| NG_007065.1:g.24910A>G , LRG_286:g.24910A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.6176A>G MANE Select | ENSP00000506558.1:p.Glu2059Gly | |
| ENST00000328333.12:c.6176A>G | ENSP00000332371.8:p.Glu2059Gly | |
| ENST00000487017.5:n.2093A>G | ||
| NM_000094.3:c.6176A>G , LRG_286t1:c.6176A>G | NP_000085.1:p.Glu2059Gly | |
| XM_011533336.1:c.6203A>G | XP_011531638.1:p.Glu2068Gly | |
| XM_011533337.1:c.6176A>G | XP_011531639.1:p.Glu2059Gly | |
| XM_011533338.1:c.6203A>G | XP_011531640.1:p.Glu2068Gly | |
| XM_011533339.1:c.6203A>G | XP_011531641.1:p.Glu2068Gly | |
| XM_011533340.1:c.6203A>G | XP_011531642.1:p.Glu2068Gly | |
| XM_011533341.1:c.6203A>G | XP_011531643.1:p.Glu2068Gly | |
| XM_011533342.1:c.6203A>G | XP_011531644.1:p.Glu2068Gly | |
| XR_940369.1:n.6239A>G | ||
| XR_940370.1:n.6239A>G | ||
| XR_940371.1:n.6239A>G | ||
| XR_940372.1:n.6239A>G | ||
| XR_940373.1:n.6239A>G | ||
| XR_940374.1:n.6239A>G | ||
| XR_940375.1:n.6181+58A>G | ||
| XM_017005688.1:c.6176A>G | XP_016861177.1:p.Glu2059Gly | |
| XM_017005689.1:c.6176A>G | XP_016861178.1:p.Glu2059Gly | |
| XM_017005690.1:c.6176A>G | XP_016861179.1:p.Glu2059Gly | |
| XM_017005691.1:c.6176A>G | XP_016861180.1:p.Glu2059Gly | |
| XM_017005692.1:c.6176A>G | XP_016861181.1:p.Glu2059Gly | |
| XR_001740003.1:n.6212A>G | ||
| XR_001740004.1:n.6212A>G | ||
| XR_001740005.1:n.6212A>G | ||
| XR_001740006.1:n.6212A>G | ||
| XR_001740007.1:n.6212A>G | ||
| XR_001740008.1:n.6212A>G | ||
| XR_001740009.1:n.6154+58A>G | ||
| NM_000094.4:c.6176A>G MANE Select | NP_000085.1:p.Glu2059Gly |