Linked Data
ClinVar Variation Id:
2863603
dbSNP Id:
rs1321766637
gnomAD v2:
9-139391628-C-A
gnomAD v4:
9-136497176-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497176C>A , CM000671.2:g.136497176C>A | GRCh38 |
| NC_000009.11:g.139391628C>A , CM000671.1:g.139391628C>A | GRCh37 |
| NC_000009.10:g.138511449C>A | NCBI36 |
| NG_007458.1:g.53611G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6563G>T MANE Select | ENSP00000498587.1:p.Gly2188Val | |
| ENST00000679595.1:c.*1603G>T | ENSP00000506241.1:n.*1603G>T | |
| ENST00000679969.1:n.3159G>T | ||
| ENST00000680003.1:n.2895G>T | ||
| ENST00000680133.1:c.6449G>T | ENSP00000505319.1:p.Gly2150Val | |
| ENST00000680218.1:c.6443G>T | ENSP00000505339.1:p.Gly2148Val | |
| ENST00000680668.1:c.6449G>T | ENSP00000506336.1:p.Gly2150Val | |
| ENST00000680778.1:c.4160G>T | ENSP00000506033.1:p.Gly1387Val | |
| ENST00000680924.1:c.*3963G>T | ENSP00000506031.1:n.*3963G>T | |
| ENST00000681135.1:c.*4172G>T | ENSP00000506636.1:n.*4172G>T | |
| ENST00000681298.1:n.4668G>T | ||
| ENST00000681454.1:c.*5799G>T | ENSP00000505763.1:n.*5799G>T | |
| ENST00000277541.6:c.6563G>T | ENSP00000277541.6:p.Gly2188Val | |
| NM_017617.3:c.6563G>T | NP_060087.3:p.Gly2188Val | |
| XM_011518717.1:c.5864G>T | XP_011517019.1:p.Gly1955Val | |
| NM_017617.5:c.6563G>T MANE Select | NP_060087.3:p.Gly2188Val | |
| XM_011518717.2:c.5840G>T | XP_011517019.2:p.Gly1947Val |