Linked Data
dbSNP Id:
rs2076904071
gnomAD v3:
X-68064065-C-T
gnomAD v4:
X-68064065-C-T
MyVariant Identifiers:
chrX:g.67283907C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68064065C>T , CM000685.2:g.68064065C>T | GRCh38 |
| NC_000023.10:g.67283907C>T , CM000685.1:g.67283907C>T | GRCh37 |
| NC_000023.9:g.67200632C>T | NCBI36 |
| NG_008960.1:g.374393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.1947G>A MANE Select | ENSP00000347710.5:p.Gly649= | |
| ENST00000679748.1:c.1834+9087G>A | ENSP00000505800.1:n.1834+9087G>A | |
| ENST00000679822.1:c.1834+9087G>A | ENSP00000505810.1:n.1834+9087G>A | |
| ENST00000680592.1:n.1453G>A | ||
| ENST00000680612.1:c.1686+32805G>A | ENSP00000505365.1:n.1686+32805G>A | |
| ENST00000681408.1:c.1842G>A | ENSP00000506619.1:p.Gly614= | |
| ENST00000355520.5:c.1947G>A | ENSP00000347710.5:p.Gly649= | |
| ENST00000484842.1:n.563G>A | ||
| NM_002547.2:c.1947G>A | NP_002538.1:p.Gly649= | |
| XM_005262270.1:c.1834+9087G>A | XP_005262327.1:n.1834+9087G>A | |
| XM_006724653.1:c.1947G>A | XP_006724716.1:p.Gly649= | |
| XM_011530961.1:c.1947G>A | XP_011529263.1:p.Gly649= | |
| XM_006724653.2:c.1947G>A | XP_006724716.1:p.Gly649= | |
| NM_002547.3:c.1947G>A MANE Select | NP_002538.1:p.Gly649= |