Linked Data
ClinVar Variation Id:
235639
dbSNP Id:
rs78353028
ExAC:
12:6061675 G / A
gnomAD v2:
12-6061675-G-A
gnomAD v3:
12-5952509-G-A
gnomAD v4:
12-5952509-G-A
ERepo:
CA6401422/MONDO:0019565/090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5952509G>A , CM000674.2:g.5952509G>A | GRCh38 |
| NC_000012.11:g.6061675G>A , CM000674.1:g.6061675G>A | GRCh37 |
| NC_000012.10:g.5931936G>A | NCBI36 |
| NG_009072.1:g.177162C>T | |
| NG_009072.2:g.177162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.7997C>T MANE Select | ENSP00000261405.5:p.Thr2666Met | |
| ENST00000261405.9:c.7997C>T | ENSP00000261405.5:p.Thr2666Met | |
| ENST00000612016.1:n.406C>T | ||
| ENST00000621700.1:n.315C>T | ||
| NM_000552.3:c.7997C>T | NP_000543.2:p.Thr2666Met | |
| NM_000552.4:c.7997C>T | NP_000543.2:p.Thr2666Met | |
| NM_000552.5:c.7997C>T MANE Select | NP_000543.3:p.Thr2666Met |