Linked Data
ClinVar Variation Id:
335103
dbSNP Id:
rs886055803
gnomAD v2:
2-238249509-T-G
gnomAD v4:
2-237340866-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340866T>G , CM000664.2:g.237340866T>G | GRCh38 |
| NC_000002.11:g.238249509T>G , CM000664.1:g.238249509T>G | GRCh37 |
| NC_000002.10:g.237914248T>G | NCBI36 |
| NG_008676.1:g.78342A>C , LRG_473:g.78342A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.695A>C | ||
| ENST00000353578.9:c.7432A>C | ENSP00000315873.4:p.Lys2478Gln | |
| ENST00000682957.1:c.53A>C | ||
| ENST00000684508.1:n.317A>C | ||
| ENST00000295550.9:c.8050A>C MANE Select | ENSP00000295550.4:p.Lys2684Gln | |
| ENST00000295550.8:c.8050A>C | ENSP00000295550.4:p.Lys2684Gln | |
| ENST00000347401.7:c.6226A>C | ENSP00000315609.4:p.Lys2076Gln | |
| ENST00000353578.8:c.7432A>C | ENSP00000315873.4:p.Lys2478Gln | |
| ENST00000409809.5:c.7432A>C | ENSP00000386844.1:p.Lys2478Gln | |
| ENST00000472056.5:c.6229A>C | ENSP00000418285.1:p.Lys2077Gln | |
| ENST00000491769.1:n.4492A>C | ||
| NM_004369.3:c.8050A>C , LRG_473t1:c.8050A>C | NP_004360.2:p.Lys2684Gln | |
| NM_057166.4:c.6229A>C | NP_476507.3:p.Lys2077Gln | |
| NM_057167.3:c.7432A>C | NP_476508.2:p.Lys2478Gln | |
| XM_005246065.1:c.7450A>C | XP_005246122.1:p.Lys2484Gln | |
| XM_005246066.1:c.6829A>C | XP_005246123.1:p.Lys2277Gln | |
| XM_006712253.1:c.7549A>C | XP_006712316.1:p.Lys2517Gln | |
| XM_011510574.1:c.8047A>C | XP_011508876.1:p.Lys2683Gln | |
| XM_011510575.1:c.5644A>C | XP_011508877.1:p.Lys1882Gln | |
| XM_017003304.1:c.5644A>C | XP_016858793.1:p.Lys1882Gln | |
| XM_024452684.1:c.6829A>C | XP_024308452.1:p.Lys2277Gln | |
| NM_004369.4:c.8050A>C MANE Select | NP_004360.2:p.Lys2684Gln | |
| NM_057166.5:c.6229A>C | NP_476507.3:p.Lys2077Gln | |
| NM_057167.4:c.7432A>C | NP_476508.2:p.Lys2478Gln |