Linked Data
ClinVar Variation Id:
197437
dbSNP Id:
rs113721676
ExAC:
2:238243528 C / T
gnomAD v2:
2-238243528-C-T
gnomAD v3:
2-237334885-C-T
gnomAD v4:
2-237334885-C-T
COSMIC:
COSM3051237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334885C>T , CM000664.2:g.237334885C>T | GRCh38 |
| NC_000002.11:g.238243528C>T , CM000664.1:g.238243528C>T | GRCh37 |
| NC_000002.10:g.237908267C>T | NCBI36 |
| NG_008676.1:g.84323G>A , LRG_473:g.84323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1610+1250G>A | ||
| ENST00000353578.9:c.8352G>A | ENSP00000315873.4:p.Lys2784= | |
| ENST00000682957.1:c.1097G>A | ||
| ENST00000295550.9:c.8970G>A MANE Select | ENSP00000295550.4:p.Lys2990= | |
| ENST00000295550.8:c.8970G>A | ENSP00000295550.4:p.Lys2990= | |
| ENST00000347401.7:c.7146G>A | ENSP00000315609.4:p.Lys2382= | |
| ENST00000353578.8:c.8352G>A | ENSP00000315873.4:p.Lys2784= | |
| ENST00000409809.5:c.8352G>A | ENSP00000386844.1:p.Lys2784= | |
| ENST00000472056.5:c.7149G>A | ENSP00000418285.1:p.Lys2383= | |
| ENST00000491769.1:n.5412G>A | ||
| NM_004369.3:c.8970G>A , LRG_473t1:c.8970G>A | NP_004360.2:p.Lys2990= | |
| NM_057166.4:c.7149G>A | NP_476507.3:p.Lys2383= | |
| NM_057167.3:c.8352G>A | NP_476508.2:p.Lys2784= | |
| XM_005246065.1:c.8370G>A | XP_005246122.1:p.Lys2790= | |
| XM_005246066.1:c.7749G>A | XP_005246123.1:p.Lys2583= | |
| XM_006712253.1:c.8469G>A | XP_006712316.1:p.Lys2823= | |
| XM_011510574.1:c.8967G>A | XP_011508876.1:p.Lys2989= | |
| XM_011510575.1:c.6564G>A | XP_011508877.1:p.Lys2188= | |
| XM_017003304.1:c.6564G>A | XP_016858793.1:p.Lys2188= | |
| XM_024452684.1:c.7749G>A | XP_024308452.1:p.Lys2583= | |
| NM_004369.4:c.8970G>A MANE Select | NP_004360.2:p.Lys2990= | |
| NM_057166.5:c.7149G>A | NP_476507.3:p.Lys2383= | |
| NM_057167.4:c.8352G>A | NP_476508.2:p.Lys2784= |