Linked Data
ClinVar Variation Id:
476562
dbSNP Id:
rs759009226
ExAC:
2:238245128 G / A
gnomAD v2:
2-238245128-G-A
gnomAD v3:
2-237336485-G-A
gnomAD v4:
2-237336485-G-A
COSMIC:
COSM4606026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336485G>A , CM000664.2:g.237336485G>A | GRCh38 |
| NC_000002.11:g.238245128G>A , CM000664.1:g.238245128G>A | GRCh37 |
| NC_000002.10:g.237909867G>A | NCBI36 |
| NG_008676.1:g.82723C>T , LRG_473:g.82723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1260C>T | ||
| ENST00000353578.9:c.7997C>T | ENSP00000315873.4:p.Thr2666Met | |
| ENST00000682957.1:c.742C>T | ||
| ENST00000684508.1:n.882C>T | ||
| ENST00000295550.9:c.8615C>T MANE Select | ENSP00000295550.4:p.Thr2872Met | |
| ENST00000295550.8:c.8615C>T | ENSP00000295550.4:p.Thr2872Met | |
| ENST00000347401.7:c.6791C>T | ENSP00000315609.4:p.Thr2264Met | |
| ENST00000353578.8:c.7997C>T | ENSP00000315873.4:p.Thr2666Met | |
| ENST00000409809.5:c.7997C>T | ENSP00000386844.1:p.Thr2666Met | |
| ENST00000472056.5:c.6794C>T | ENSP00000418285.1:p.Thr2265Met | |
| ENST00000491769.1:n.5057C>T | ||
| NM_004369.3:c.8615C>T , LRG_473t1:c.8615C>T | NP_004360.2:p.Thr2872Met | |
| NM_057166.4:c.6794C>T | NP_476507.3:p.Thr2265Met | |
| NM_057167.3:c.7997C>T | NP_476508.2:p.Thr2666Met | |
| XM_005246065.1:c.8015C>T | XP_005246122.1:p.Thr2672Met | |
| XM_005246066.1:c.7394C>T | XP_005246123.1:p.Thr2465Met | |
| XM_006712253.1:c.8114C>T | XP_006712316.1:p.Thr2705Met | |
| XM_011510574.1:c.8612C>T | XP_011508876.1:p.Thr2871Met | |
| XM_011510575.1:c.6209C>T | XP_011508877.1:p.Thr2070Met | |
| XM_017003304.1:c.6209C>T | XP_016858793.1:p.Thr2070Met | |
| XM_024452684.1:c.7394C>T | XP_024308452.1:p.Thr2465Met | |
| NM_004369.4:c.8615C>T MANE Select | NP_004360.2:p.Thr2872Met | |
| NM_057166.5:c.6794C>T | NP_476507.3:p.Thr2265Met | |
| NM_057167.4:c.7997C>T | NP_476508.2:p.Thr2666Met |