Linked Data
dbSNP Id:
rs112170723
ExAC:
X:153135899 G / T
gnomAD v2:
X-153135899-G-T
gnomAD v4:
X-153870444-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153870444G>T , CM000685.2:g.153870444G>T | GRCh38 |
| NC_000023.10:g.153135899G>T , CM000685.1:g.153135899G>T | GRCh37 |
| NC_000023.9:g.152789093G>T | NCBI36 |
| NG_009645.3:g.43780C>A | |
| NG_009645.4:g.20730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.750C>A MANE Select | ENSP00000359077.1:p.Ser250Arg | |
| ENST00000361699.8:c.750C>A | ENSP00000355380.4:p.Ser250Arg | |
| ENST00000361981.7:c.735C>A | ENSP00000354712.3:p.Ser245Arg | |
| ENST00000370055.5:c.735C>A | ENSP00000359072.1:p.Ser245Arg | |
| ENST00000370060.5:c.750C>A | ENSP00000359077.1:p.Ser250Arg | |
| NM_000425.4:c.750C>A | NP_000416.1:p.Ser250Arg | |
| NM_001143963.2:c.735C>A | NP_001137435.1:p.Ser245Arg | |
| NM_001278116.1:c.750C>A | NP_001265045.1:p.Ser250Arg | |
| NM_024003.3:c.750C>A | NP_076493.1:p.Ser250Arg | |
| NM_000425.5:c.750C>A | NP_000416.1:p.Ser250Arg | |
| NM_001278116.2:c.750C>A MANE Select | NP_001265045.1:p.Ser250Arg |