Linked Data
ClinVar Variation Id:
393450
ClinVar RCV Id:
RCV000445412
dbSNP Id:
rs1057524903
gnomAD v2:
7-44186065-T-C
ERepo:
CA16609267/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146466T>C , CM000669.2:g.44146466T>C | GRCh38 |
| NC_000007.13:g.44186065T>C , CM000669.1:g.44186065T>C | GRCh37 |
| NC_000007.12:g.44152590T>C | NCBI36 |
| NG_008847.1:g.47958A>G | |
| NG_008847.2:g.56705A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1014A>G | ENSP00000379142.4:n.*1014A>G | |
| ENST00000616242.5:c.*136A>G | ENSP00000482149.2:n.*136A>G | |
| ENST00000683378.1:n.242A>G | ||
| ENST00000345378.7:c.1019A>G | ENSP00000223366.2:p.Glu340Gly | |
| ENST00000403799.8:c.1016A>G MANE Select | ENSP00000384247.3:p.Glu339Gly | |
| ENST00000671824.1:c.1079A>G | ENSP00000500264.1:p.Glu360Gly | |
| ENST00000673284.1:c.1016A>G | ENSP00000499852.1:p.Glu339Gly | |
| ENST00000345378.6:c.1019A>G | ENSP00000223366.2:p.Glu340Gly | |
| ENST00000395796.7:c.1013A>G | ENSP00000379142.3:p.Glu338Gly | |
| ENST00000403799.7:c.1016A>G | ENSP00000384247.3:p.Glu339Gly | |
| ENST00000437084.1:c.965A>G | ENSP00000402840.1:p.Glu322Gly | |
| ENST00000473353.1:n.314A>G | ||
| ENST00000616242.4:c.1013A>G | ENSP00000482149.1:p.Glu338Gly | |
| NM_000162.3:c.1016A>G | NP_000153.1:p.Glu339Gly | |
| NM_033507.1:c.1019A>G | NP_277042.1:p.Glu340Gly | |
| NM_033508.1:c.1013A>G | NP_277043.1:p.Glu338Gly | |
| NM_000162.4:c.1016A>G | NP_000153.1:p.Glu339Gly | |
| NM_001354800.1:c.1016A>G | NP_001341729.1:p.Glu339Gly | |
| NM_001354801.1:c.8+153A>G | NP_001341730.1:n.8+153A>G | |
| NM_033507.2:c.1019A>G | NP_277042.1:p.Glu340Gly | |
| NM_033508.2:c.1013A>G | NP_277043.1:p.Glu338Gly | |
| NM_000162.5:c.1016A>G MANE Select | NP_000153.1:p.Glu339Gly | |
| NM_033507.3:c.1019A>G | NP_277042.1:p.Glu340Gly | |
| NM_033508.3:c.1013A>G | NP_277043.1:p.Glu338Gly |