Linked Data
dbSNP Id:
rs760326097
ExAC:
X:119064052 T / G
gnomAD v2:
X-119064052-T-G
gnomAD v4:
X-119930089-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930089T>G , CM000685.2:g.119930089T>G | GRCh38 |
| NC_000023.10:g.119064052T>G , CM000685.1:g.119064052T>G | GRCh37 |
| NC_000023.9:g.118948080T>G | NCBI36 |
| NG_021260.1:g.18684A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1000A>C MANE Select | ENSP00000360464.3:p.Arg334= | |
| ENST00000652253.1:c.996A>C | ||
| ENST00000371410.4:c.1000A>C | ENSP00000360464.3:p.Arg334= | |
| ENST00000477789.5:n.1928A>C | ||
| NM_024528.3:c.1000A>C | NP_078804.2:p.Arg334= | |
| XM_017029842.1:c.703A>C | XP_016885331.1:p.Arg235= | |
| NM_024528.4:c.1000A>C MANE Select | NP_078804.2:p.Arg334= |