Linked Data
dbSNP Id:
rs2315123
ExAC:
X:153421847 T / G
gnomAD v2:
X-153421847-T-G
gnomAD v4:
X-154156372-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156372T>G , CM000685.2:g.154156372T>G | GRCh38 |
| NC_000023.10:g.153421847T>G , CM000685.1:g.153421847T>G | GRCh37 |
| NC_000023.9:g.153075041T>G | NCBI36 |
| NG_009105.2:g.17122T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369951.9:c.823T>G MANE Select | ENSP00000358967.4:p.Phe275Val | |
| ENST00000369951.8:c.823T>G | ENSP00000358967.4:p.Phe275Val | |
| ENST00000442922.1:c.384+28T>G | ENSP00000402493.1:n.384+28T>G | |
| ENST00000463296.1:n.667T>G | ||
| NM_020061.5:c.823T>G | NP_064445.2:p.Phe275Val | |
| NM_020061.6:c.823T>G MANE Select | NP_064445.2:p.Phe275Val |