Linked Data
ClinVar Variation Id:
284554
dbSNP Id:
rs760446904
ExAC:
2:238269775 C / T
gnomAD v2:
2-238269775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237361132C>T , CM000664.2:g.237361132C>T | GRCh38 |
| NC_000002.11:g.238269775C>T , CM000664.1:g.238269775C>T | GRCh37 |
| NC_000002.10:g.237934514C>T | NCBI36 |
| NG_008676.1:g.58076G>A , LRG_473:g.58076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353578.9:c.5581G>A | ENSP00000315873.4:p.Glu1861Lys | |
| ENST00000295550.9:c.6199G>A MANE Select | ENSP00000295550.4:p.Glu2067Lys | |
| ENST00000295550.8:c.6199G>A | ENSP00000295550.4:p.Glu2067Lys | |
| ENST00000347401.7:c.4378G>A | ENSP00000315609.4:p.Glu1460Lys | |
| ENST00000353578.8:c.5581G>A | ENSP00000315873.4:p.Glu1861Lys | |
| ENST00000409809.5:c.5581G>A | ENSP00000386844.1:p.Glu1861Lys | |
| ENST00000472056.5:c.4378G>A | ENSP00000418285.1:p.Glu1460Lys | |
| NM_004369.3:c.6199G>A , LRG_473t1:c.6199G>A | NP_004360.2:p.Glu2067Lys | |
| NM_057166.4:c.4378G>A | NP_476507.3:p.Glu1460Lys | |
| NM_057167.3:c.5581G>A | NP_476508.2:p.Glu1861Lys | |
| XM_005246065.1:c.5599G>A | XP_005246122.1:p.Glu1867Lys | |
| XM_005246066.1:c.4978G>A | XP_005246123.1:p.Glu1660Lys | |
| XM_006712253.1:c.5698G>A | XP_006712316.1:p.Glu1900Lys | |
| XM_011510574.1:c.6196G>A | XP_011508876.1:p.Glu2066Lys | |
| XM_011510575.1:c.3793G>A | XP_011508877.1:p.Glu1265Lys | |
| XM_017003304.1:c.3793G>A | XP_016858793.1:p.Glu1265Lys | |
| XM_024452684.1:c.4978G>A | XP_024308452.1:p.Glu1660Lys | |
| NM_004369.4:c.6199G>A MANE Select | NP_004360.2:p.Glu2067Lys | |
| NM_057166.5:c.4378G>A | NP_476507.3:p.Glu1460Lys | |
| NM_057167.4:c.5581G>A | NP_476508.2:p.Glu1861Lys |