Linked Data
ClinVar Variation Id:
644363
ClinVar RCV Id:
RCV000798259
dbSNP Id:
rs773137647
ExAC:
9:139393659 G / A
gnomAD v2:
9-139393659-G-A
gnomAD v3:
9-136499207-G-A
gnomAD v4:
9-136499207-G-A
COSMIC:
COSM22672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136499207G>A , CM000671.2:g.136499207G>A | GRCh38 |
| NC_000009.11:g.139393659G>A , CM000671.1:g.139393659G>A | GRCh37 |
| NC_000009.10:g.138513480G>A | NCBI36 |
| NG_007458.1:g.51580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.5987C>T MANE Select | ENSP00000498587.1:p.Thr1996Met | |
| ENST00000679595.1:c.*1027C>T | ENSP00000506241.1:n.*1027C>T | |
| ENST00000679969.1:n.2468C>T | ||
| ENST00000680003.1:n.2319C>T | ||
| ENST00000680133.1:c.5873C>T | ENSP00000505319.1:p.Thr1958Met | |
| ENST00000680218.1:c.5867C>T | ENSP00000505339.1:p.Thr1956Met | |
| ENST00000680668.1:c.5873C>T | ENSP00000506336.1:p.Thr1958Met | |
| ENST00000680778.1:c.3584C>T | ENSP00000506033.1:p.Thr1195Met | |
| ENST00000680924.1:c.*3387C>T | ENSP00000506031.1:n.*3387C>T | |
| ENST00000681135.1:c.*3596C>T | ENSP00000506636.1:n.*3596C>T | |
| ENST00000681298.1:n.4092C>T | ||
| ENST00000681454.1:c.*5223C>T | ENSP00000505763.1:n.*5223C>T | |
| ENST00000277541.6:c.5987C>T | ENSP00000277541.6:p.Thr1996Met | |
| NM_017617.3:c.5987C>T | NP_060087.3:p.Thr1996Met | |
| XM_011518717.1:c.5288C>T | XP_011517019.1:p.Thr1763Met | |
| NM_017617.5:c.5987C>T MANE Select | NP_060087.3:p.Thr1996Met | |
| XM_011518717.2:c.5264C>T | XP_011517019.2:p.Thr1755Met |