Linked Data
ClinVar Variation Id:
195739
dbSNP Id:
rs199917719
ExAC:
X:153588203 G / A
gnomAD v2:
X-153588203-G-A
gnomAD v3:
X-154359835-G-A
gnomAD v4:
X-154359835-G-A
PubMed:
PMID:26404489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154359835G>A , CM000685.2:g.154359835G>A | GRCh38 |
| NC_000023.10:g.153588203G>A , CM000685.1:g.153588203G>A | GRCh37 |
| NC_000023.9:g.153241397G>A | NCBI36 |
| NG_011506.1:g.19804C>T | |
| NG_011506.2:g.19804C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360319.9:c.3876C>T | ENSP00000353467.4:p.His1292= | |
| ENST00000369850.10:c.3876C>T MANE Select | ENSP00000358866.3:p.His1292= | |
| ENST00000369856.8:c.3795C>T | ENSP00000358872.4:p.His1265= | |
| ENST00000422373.6:c.3160+1520C>T | ENSP00000416926.2:n.3160+1520C>T | |
| ENST00000610817.5:c.3933C>T | ENSP00000480593.2:n.3933C>T | |
| ENST00000673639.2:c.279+5601C>T | ||
| ENST00000676696.1:c.4155C>T | ENSP00000503392.1:n.4155C>T | |
| ENST00000344736.8:c.3876C>T | ENSP00000358863.3:p.His1292= | |
| ENST00000360319.8:c.3876C>T | ENSP00000353467.4:p.His1292= | |
| ENST00000369850.7:c.3876C>T | ENSP00000358866.3:p.His1292= | |
| ENST00000369856.7:c.3795C>T | ENSP00000358872.4:p.His1265= | |
| ENST00000420627.5:c.3832C>T | ENSP00000408921.1:n.3832C>T | |
| ENST00000422373.5:c.3876C>T | ENSP00000416926.1:p.His1292= | |
| ENST00000610817.4:c.3795C>T | ENSP00000480593.1:p.His1265= | |
| NM_001110556.1:c.3876C>T | NP_001104026.1:p.His1292= | |
| NM_001456.3:c.3876C>T | NP_001447.2:p.His1292= | |
| XM_011531127.1:c.3876C>T | XP_011529429.1:p.His1292= | |
| XM_011531128.1:c.3876C>T | XP_011529430.1:p.His1292= | |
| XM_011531129.1:c.3876C>T | XP_011529431.1:p.His1292= | |
| XM_011531130.1:c.3876C>T | XP_011529432.1:p.His1292= | |
| XM_011531131.1:c.3675C>T | XP_011529433.1:p.His1225= | |
| NM_001110556.2:c.3876C>T MANE Select | NP_001104026.1:p.His1292= | |
| NM_001456.4:c.3876C>T | NP_001447.2:p.His1292= |