Linked Data
ClinVar Variation Id:
1169993
dbSNP Id:
rs1556468340
gnomAD v2:
X-37655269-G-A
gnomAD v3:
X-37796016-G-A
gnomAD v4:
X-37796016-G-A
MyVariant Identifiers:
chrX:g.37655269G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796016G>A , CM000685.2:g.37796016G>A | GRCh38 |
| NC_000023.10:g.37655269G>A , CM000685.1:g.37655269G>A | GRCh37 |
| NC_000023.9:g.37540209G>A | NCBI36 |
| NG_009065.1:g.20996G>A , LRG_53:g.20996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*58G>A | ENSP00000512461.1:n.*58G>A | |
| ENST00000696171.1:c.453G>A | ENSP00000512462.1:p.Thr151= | |
| ENST00000696172.1:c.338-2939G>A | ENSP00000512463.1:n.338-2939G>A | |
| ENST00000378588.5:c.549G>A MANE Select | ENSP00000367851.4:p.Thr183= | |
| ENST00000378588.4:c.549G>A | ENSP00000367851.4:p.Thr183= | |
| ENST00000465127.1:c.171+370016G>A | ENSP00000417050.1:n.171+370016G>A | |
| NM_000397.3:c.549G>A , LRG_53t1:c.549G>A | NP_000388.2:p.Thr183= | |
| XM_011543890.1:c.243G>A | XP_011542192.1:p.Thr81= | |
| NM_000397.4:c.549G>A MANE Select | NP_000388.2:p.Thr183= |