Linked Data
dbSNP Id:
rs781912915
ExAC:
X:153608269 G / T
gnomAD v2:
X-153608269-G-T
gnomAD v3:
X-154379909-G-T
gnomAD v4:
X-154379909-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379909G>T , CM000685.2:g.154379909G>T | GRCh38 |
| NC_000023.10:g.153608269G>T , CM000685.1:g.153608269G>T | GRCh37 |
| NC_000023.9:g.153261463G>T | NCBI36 |
| NG_008677.1:g.10474G>T , LRG_745:g.10474G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.188-33G>T | ENSP00000507245.1:n.188-33G>T | |
| ENST00000682478.1:n.164-33G>T | ||
| ENST00000683576.1:n.164-33G>T | ||
| ENST00000683627.1:c.188-33G>T | ENSP00000507533.1:n.188-33G>T | |
| ENST00000684082.1:c.188-33G>T | ENSP00000508266.1:n.188-33G>T | |
| ENST00000684633.1:n.160-33G>T | ||
| ENST00000684678.1:c.184-33G>T | ENSP00000507059.1:n.184-33G>T | |
| ENST00000369842.9:c.188-33G>T MANE Select | ENSP00000358857.4:n.188-33G>T | |
| ENST00000369835.3:c.83-33G>T | ENSP00000358850.3:n.83-33G>T | |
| ENST00000369842.8:c.188-33G>T | ENSP00000358857.4:n.188-33G>T | |
| ENST00000428228.5:c.*93-33G>T | ENSP00000401081.1:n.*93-33G>T | |
| ENST00000468294.5:n.148-33G>T | ||
| ENST00000485261.1:n.164-33G>T | ||
| ENST00000486738.5:n.332-33G>T | ||
| ENST00000492448.1:n.171-33G>T | ||
| ENST00000494443.5:n.245-33G>T | ||
| NM_000117.2:c.188-33G>T , LRG_745t1:c.188-33G>T | NP_000108.1:n.188-33G>T | |
| XM_024452349.1:c.-21-33G>T | XP_024308117.1:n.-21-33G>T | |
| NM_000117.3:c.188-33G>T MANE Select | NP_000108.1:n.188-33G>T |