Linked Data
ClinVar Variation Id:
36217
dbSNP Id:
rs193922296
ExAC:
7:44190598 C / T
gnomAD v2:
7-44190598-C-T
gnomAD v4:
7-44150999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44150999C>T , CM000669.2:g.44150999C>T | GRCh38 |
| NC_000007.13:g.44190598C>T , CM000669.1:g.44190598C>T | GRCh37 |
| NC_000007.12:g.44157123C>T | NCBI36 |
| NG_008847.1:g.43425G>A | |
| NG_008847.2:g.52172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*438G>A | ENSP00000379142.4:n.*438G>A | |
| ENST00000616242.5:c.440G>A | ENSP00000482149.2:p.Gly147Asp | |
| ENST00000682635.1:n.926G>A | ||
| ENST00000345378.7:c.443G>A | ENSP00000223366.2:p.Gly148Asp | |
| ENST00000403799.8:c.440G>A MANE Select | ENSP00000384247.3:p.Gly147Asp | |
| ENST00000671824.1:c.440G>A | ENSP00000500264.1:p.Gly147Asp | |
| ENST00000673284.1:c.440G>A | ENSP00000499852.1:p.Gly147Asp | |
| ENST00000345378.6:c.443G>A | ENSP00000223366.2:p.Gly148Asp | |
| ENST00000395796.7:c.437G>A | ENSP00000379142.3:p.Gly146Asp | |
| ENST00000403799.7:c.440G>A | ENSP00000384247.3:p.Gly147Asp | |
| ENST00000437084.1:c.389G>A | ENSP00000402840.1:p.Gly130Asp | |
| ENST00000616242.4:c.437G>A | ENSP00000482149.1:p.Gly146Asp | |
| NM_000162.3:c.440G>A | NP_000153.1:p.Gly147Asp | |
| NM_033507.1:c.443G>A | NP_277042.1:p.Gly148Asp | |
| NM_033508.1:c.437G>A | NP_277043.1:p.Gly146Asp | |
| NM_000162.4:c.440G>A | NP_000153.1:p.Gly147Asp | |
| NM_001354800.1:c.440G>A | NP_001341729.1:p.Gly147Asp | |
| NM_033507.2:c.443G>A | NP_277042.1:p.Gly148Asp | |
| NM_033508.2:c.437G>A | NP_277043.1:p.Gly146Asp | |
| NM_000162.5:c.440G>A MANE Select | NP_000153.1:p.Gly147Asp | |
| NM_033507.3:c.443G>A | NP_277042.1:p.Gly148Asp | |
| NM_033508.3:c.437G>A | NP_277043.1:p.Gly146Asp |