Linked Data
dbSNP Id:
rs370035583
ExAC:
X:153607965 C / G
gnomAD v2:
X-153607965-C-G
gnomAD v3:
X-154379605-C-G
gnomAD v4:
X-154379605-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379605C>G , CM000685.2:g.154379605C>G | GRCh38 |
| NC_000023.10:g.153607965C>G , CM000685.1:g.153607965C>G | GRCh37 |
| NC_000023.9:g.153261159C>G | NCBI36 |
| NG_008677.1:g.10170C>G , LRG_745:g.10170C>G | |
| NG_011506.1:g.42G>C | |
| NG_011506.2:g.34G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.82+39C>G | ENSP00000507245.1:n.82+39C>G | |
| ENST00000682478.1:n.58+39C>G | ||
| ENST00000683576.1:n.58+39C>G | ||
| ENST00000683627.1:c.82+39C>G | ENSP00000507533.1:n.82+39C>G | |
| ENST00000684082.1:c.82+39C>G | ENSP00000508266.1:n.82+39C>G | |
| ENST00000684633.1:n.54+43C>G | ||
| ENST00000684678.1:c.78+43C>G | ENSP00000507059.1:n.78+43C>G | |
| ENST00000369842.9:c.82+39C>G MANE Select | ENSP00000358857.4:n.82+39C>G | |
| ENST00000369835.3:c.82+39C>G | ENSP00000358850.3:n.82+39C>G | |
| ENST00000369842.8:c.82+39C>G | ENSP00000358857.4:n.82+39C>G | |
| ENST00000428228.5:c.53+68C>G | ENSP00000401081.1:n.53+68C>G | |
| ENST00000468294.5:n.42+39C>G | ||
| ENST00000485261.1:n.163+39C>G | ||
| ENST00000486738.5:n.226+39C>G | ||
| ENST00000494443.5:n.139+39C>G | ||
| NM_000117.2:c.82+39C>G , LRG_745t1:c.82+39C>G | NP_000108.1:n.82+39C>G | |
| XM_024452349.1:c.-127+39C>G | XP_024308117.1:n.-127+39C>G | |
| NM_000117.3:c.82+39C>G MANE Select | NP_000108.1:n.82+39C>G |