Linked Data
ClinVar Variation Id:
338021
dbSNP Id:
rs143110856
ExAC:
20:2640993 C / T
gnomAD v2:
20-2640993-C-T
gnomAD v3:
20-2660347-C-T
gnomAD v4:
20-2660347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2660347C>T , CM000682.2:g.2660347C>T | GRCh38 |
| NC_000020.10:g.2640993C>T , CM000682.1:g.2640993C>T | GRCh37 |
| NC_000020.9:g.2588993C>T | NCBI36 |
| NG_012149.1:g.8851G>A | |
| NG_032136.1:g.12816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380843.9:c.684G>A MANE Select | ENSP00000370223.4:p.Leu228= | |
| ENST00000380843.8:c.684G>A | ENSP00000370223.4:p.Leu228= | |
| ENST00000380851.9:c.684G>A | ENSP00000370232.5:p.Leu228= | |
| ENST00000462967.5:n.908G>A | ||
| ENST00000474315.5:c.684G>A | ENSP00000482773.1:p.Leu228= | |
| ENST00000479376.1:n.207G>A | ||
| ENST00000488299.5:n.790G>A | ||
| ENST00000492240.5:n.13G>A | ||
| ENST00000613370.1:c.684G>A | ENSP00000484922.1:p.Leu228= | |
| NM_001258384.1:c.684G>A | NP_001245313.1:p.Leu228= | |
| NM_006899.3:c.684G>A | NP_008830.2:p.Leu228= | |
| NM_174855.2:c.684G>A | NP_777280.1:p.Leu228= | |
| XM_005260716.1:c.684G>A | XP_005260773.1:p.Leu228= | |
| XR_937066.1:n.712G>A | ||
| NM_001258384.2:c.684G>A | NP_001245313.1:p.Leu228= | |
| NM_001330763.1:c.684G>A | NP_001317692.1:p.Leu228= | |
| NM_006899.4:c.684G>A | NP_008830.2:p.Leu228= | |
| NM_174855.3:c.684G>A | NP_777280.1:p.Leu228= | |
| NR_136344.1:n.719G>A | ||
| XR_001754265.1:n.712G>A | ||
| XR_001754266.1:n.712G>A | ||
| XR_001754267.1:n.712G>A | ||
| NM_006899.5:c.684G>A MANE Select | NP_008830.2:p.Leu228= | |
| NM_001330763.2:c.684G>A | NP_001317692.1:p.Leu228= | |
| NM_174855.4:c.684G>A | NP_777280.1:p.Leu228= | |
| NR_136344.2:n.712G>A | ||
| NM_001258384.3:c.684G>A | NP_001245313.1:p.Leu228= |