Linked Data
dbSNP Id:
rs775871025
ExAC:
X:38534917 T / G
gnomAD v2:
X-38534917-T-G
gnomAD v4:
X-38675663-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675663T>G , CM000685.2:g.38675663T>G | GRCh38 |
| NC_000023.10:g.38534917T>G , CM000685.1:g.38534917T>G | GRCh37 |
| NC_000023.9:g.38419861T>G | NCBI36 |
| NG_009160.1:g.119187T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.442-42T>G MANE Select | ENSP00000367743.2:n.442-42T>G | |
| ENST00000286824.6:c.493-42T>G | ENSP00000286824.6:n.493-42T>G | |
| ENST00000378482.6:c.442-42T>G | ENSP00000367743.2:n.442-42T>G | |
| ENST00000419600.3:n.386-42T>G | ||
| ENST00000465127.1:c.532-42T>G | ENSP00000417050.1:n.532-42T>G | |
| ENST00000471410.5:c.*468-42T>G | ENSP00000419290.1:n.*468-42T>G | |
| ENST00000475216.5:c.*435-42T>G | ENSP00000418586.1:n.*435-42T>G | |
| ENST00000488893.5:n.625-42T>G | ||
| NM_004615.3:c.442-42T>G | NP_004606.2:n.442-42T>G | |
| NM_004615.4:c.442-42T>G MANE Select | NP_004606.2:n.442-42T>G |