Linked Data
dbSNP Id:
rs1273536092
gnomAD v3:
X-37796187-T-A
gnomAD v4:
X-37796187-T-A
MyVariant Identifiers:
chrX:g.37796187T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796187T>A , CM000685.2:g.37796187T>A | GRCh38 |
| NC_000023.10:g.37655440T>A , CM000685.1:g.37655440T>A | GRCh37 |
| NC_000023.9:g.37540380T>A | NCBI36 |
| NG_009065.1:g.21167T>A , LRG_53:g.21167T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*183+46T>A | ENSP00000512461.1:n.*183+46T>A | |
| ENST00000696171.1:c.578+46T>A | ENSP00000512462.1:n.578+46T>A | |
| ENST00000696172.1:c.338-2768T>A | ENSP00000512463.1:n.338-2768T>A | |
| ENST00000378588.5:c.674+46T>A MANE Select | ENSP00000367851.4:n.674+46T>A | |
| ENST00000378588.4:c.674+46T>A | ENSP00000367851.4:n.674+46T>A | |
| ENST00000465127.1:c.171+370187T>A | ENSP00000417050.1:n.171+370187T>A | |
| NM_000397.3:c.674+46T>A , LRG_53t1:c.674+46T>A | NP_000388.2:n.674+46T>A | |
| XM_011543890.1:c.368+46T>A | XP_011542192.1:n.368+46T>A | |
| NM_000397.4:c.674+46T>A MANE Select | NP_000388.2:n.674+46T>A |