Linked Data
ClinVar Variation Id:
11172
dbSNP Id:
rs267606782
gnomAD v4:
X-154379485-A-G
PubMed:
PMID:7894480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379485A>G , CM000685.2:g.154379485A>G | GRCh38 |
| NC_000023.10:g.153607845A>G , CM000685.1:g.153607845A>G | GRCh37 |
| NC_000023.9:g.153261039A>G | NCBI36 |
| NG_008677.1:g.10050A>G , LRG_745:g.10050A>G | |
| NG_011506.1:g.162T>C | |
| NG_011506.2:g.154T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.1A>G | ENSP00000507245.1:p.Met1Val | |
| ENST00000683627.1:c.1A>G | ENSP00000507533.1:p.Met1Val | |
| ENST00000684082.1:c.1A>G | ENSP00000508266.1:p.Met1Val | |
| ENST00000684678.1:c.1A>G | ENSP00000507059.1:p.Met1Val | |
| ENST00000369842.9:c.1A>G MANE Select | ENSP00000358857.4:p.Met1Val | |
| ENST00000369835.3:c.1A>G | ENSP00000358850.3:p.Met1Val | |
| ENST00000369842.8:c.1A>G | ENSP00000358857.4:p.Met1Val | |
| ENST00000428228.5:c.1A>G | ENSP00000401081.1:p.Met1Val | |
| ENST00000485261.1:n.82A>G | ||
| ENST00000486738.5:n.145A>G | ||
| ENST00000494443.5:n.58A>G | ||
| NM_000117.2:c.1A>G , LRG_745t1:c.1A>G | NP_000108.1:p.Met1Val | |
| XM_024452349.1:c.-208A>G | XP_024308117.1:n.-208A>G | |
| NM_000117.3:c.1A>G MANE Select | NP_000108.1:p.Met1Val |