Linked Data
ClinVar Variation Id:
1306381
dbSNP Id:
rs763785541
gnomAD v2:
9-139390765-C-T
gnomAD v4:
9-136496313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136496313C>T , CM000671.2:g.136496313C>T | GRCh38 |
| NC_000009.11:g.139390765C>T , CM000671.1:g.139390765C>T | GRCh37 |
| NC_000009.10:g.138510586C>T | NCBI36 |
| NG_007458.1:g.54474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.7426G>A MANE Select | ENSP00000498587.1:p.Val2476Met | |
| ENST00000679595.1:c.*2466G>A | ENSP00000506241.1:n.*2466G>A | |
| ENST00000679969.1:n.4022G>A | ||
| ENST00000680003.1:n.3758G>A | ||
| ENST00000680133.1:c.7312G>A | ENSP00000505319.1:p.Val2438Met | |
| ENST00000680218.1:c.7306G>A | ENSP00000505339.1:p.Val2436Met | |
| ENST00000680668.1:c.7312G>A | ENSP00000506336.1:p.Val2438Met | |
| ENST00000680778.1:c.5023G>A | ENSP00000506033.1:p.Val1675Met | |
| ENST00000680924.1:c.*4826G>A | ENSP00000506031.1:n.*4826G>A | |
| ENST00000681135.1:c.*5035G>A | ENSP00000506636.1:n.*5035G>A | |
| ENST00000681298.1:n.5531G>A | ||
| ENST00000681454.1:c.*6662G>A | ENSP00000505763.1:n.*6662G>A | |
| ENST00000277541.6:c.7426G>A | ENSP00000277541.6:p.Val2476Met | |
| NM_017617.3:c.7426G>A | NP_060087.3:p.Val2476Met | |
| XM_011518717.1:c.6727G>A | XP_011517019.1:p.Val2243Met | |
| NM_017617.5:c.7426G>A MANE Select | NP_060087.3:p.Val2476Met | |
| XM_011518717.2:c.6703G>A | XP_011517019.2:p.Val2235Met |