Linked Data
ClinVar Variation Id:
444835
dbSNP Id:
rs201250825
gnomAD v2:
X-153609113-G-A
gnomAD v3:
X-154380753-G-A
gnomAD v4:
X-154380753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380753G>A , CM000685.2:g.154380753G>A | GRCh38 |
| NC_000023.10:g.153609113G>A , CM000685.1:g.153609113G>A | GRCh37 |
| NC_000023.9:g.153262307G>A | NCBI36 |
| NG_008677.1:g.11318G>A , LRG_745:g.11318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.400G>A | ENSP00000507245.1:p.Val134Met | |
| ENST00000682478.1:n.590G>A | ||
| ENST00000683576.1:n.590G>A | ||
| ENST00000683627.1:c.400G>A | ENSP00000507533.1:p.Val134Met | |
| ENST00000684082.1:c.357G>A | ENSP00000508266.1:n.357G>A | |
| ENST00000684633.1:n.372G>A | ||
| ENST00000684678.1:c.396G>A | ENSP00000507059.1:n.396G>A | |
| ENST00000369842.9:c.400G>A MANE Select | ENSP00000358857.4:p.Val134Met | |
| ENST00000369835.3:c.295G>A | ENSP00000358850.3:p.Val99Met | |
| ENST00000369842.8:c.400G>A | ENSP00000358857.4:p.Val134Met | |
| ENST00000428228.5:c.*305G>A | ENSP00000401081.1:n.*305G>A | |
| ENST00000468294.5:n.360G>A | ||
| ENST00000471965.1:n.189G>A | ||
| ENST00000485261.1:n.590G>A | ||
| ENST00000486738.5:n.758G>A | ||
| ENST00000492448.1:n.383G>A | ||
| NM_000117.2:c.400G>A , LRG_745t1:c.400G>A | NP_000108.1:p.Val134Met | |
| XM_024452349.1:c.406G>A | XP_024308117.1:p.Val136Met | |
| NM_000117.3:c.400G>A MANE Select | NP_000108.1:p.Val134Met |