Linked Data
dbSNP Id:
rs320995
ExAC:
X:77528317 G / A
gnomAD v2:
X-77528317-G-A
gnomAD v3:
X-78272820-G-A
gnomAD v4:
X-78272820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78272820G>A , CM000685.2:g.78272820G>A | GRCh38 |
| NC_000023.10:g.77528317G>A , CM000685.1:g.77528317G>A | GRCh37 |
| NC_000023.9:g.77414973G>A | NCBI36 |
| NG_012809.1:g.59771C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373304.4:c.927C>T MANE Select | ENSP00000362401.3:p.Phe309= | |
| ENST00000373304.3:c.927C>T | ENSP00000362401.3:p.Phe309= | |
| ENST00000614798.1:c.927C>T | ENSP00000478492.1:p.Phe309= | |
| NM_001282186.1:c.927C>T | NP_001269115.1:p.Phe309= | |
| NM_001282187.1:c.927C>T | NP_001269116.1:p.Phe309= | |
| NM_001282188.1:c.927C>T | NP_001269117.1:p.Phe309= | |
| NM_006639.3:c.927C>T | NP_006630.1:p.Phe309= | |
| NM_006639.4:c.927C>T MANE Select | NP_006630.1:p.Phe309= | |
| NM_001282187.2:c.927C>T | NP_001269116.1:p.Phe309= | |
| NM_001282188.2:c.927C>T | NP_001269117.1:p.Phe309= | |
| NM_001282186.2:c.927C>T | NP_001269115.1:p.Phe309= |