Linked Data
dbSNP Id:
rs1556468353
gnomAD v2:
X-37655299-C-T
gnomAD v4:
X-37796046-C-T
MyVariant Identifiers:
chrX:g.37655299C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796046C>T , CM000685.2:g.37796046C>T | GRCh38 |
| NC_000023.10:g.37655299C>T , CM000685.1:g.37655299C>T | GRCh37 |
| NC_000023.9:g.37540239C>T | NCBI36 |
| NG_009065.1:g.21026C>T , LRG_53:g.21026C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*88C>T | ENSP00000512461.1:n.*88C>T | |
| ENST00000696171.1:c.483C>T | ENSP00000512462.1:p.Ser161= | |
| ENST00000696172.1:c.338-2909C>T | ENSP00000512463.1:n.338-2909C>T | |
| ENST00000378588.5:c.579C>T MANE Select | ENSP00000367851.4:p.Ser193= | |
| ENST00000378588.4:c.579C>T | ENSP00000367851.4:p.Ser193= | |
| ENST00000465127.1:c.171+370046C>T | ENSP00000417050.1:n.171+370046C>T | |
| NM_000397.3:c.579C>T , LRG_53t1:c.579C>T | NP_000388.2:p.Ser193= | |
| XM_011543890.1:c.273C>T | XP_011542192.1:p.Ser91= | |
| NM_000397.4:c.579C>T MANE Select | NP_000388.2:p.Ser193= |