Linked Data
dbSNP Id:
rs1557116156
gnomAD v2:
X-49111928-G-A
MyVariant Identifiers:
chrX:g.49111928G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255467G>A , CM000685.2:g.49255467G>A | GRCh38 |
| NC_000023.10:g.49111928G>A , CM000685.1:g.49111928G>A | GRCh37 |
| NC_000023.9:g.48998872G>A | NCBI36 |
| NG_007392.1:g.14361C>T , LRG_62:g.14361C>T | |
| NG_021311.2:g.25003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.673C>T | ENSP00000365372.2:p.Leu225= | |
| ENST00000376207.10:c.778C>T MANE Select | ENSP00000365380.4:p.Leu260= | |
| ENST00000455775.7:c.847C>T | ENSP00000396415.3:p.Leu283= | |
| ENST00000518685.6:c.735+248C>T | ENSP00000428952.2:n.735+248C>T | |
| ENST00000557224.6:c.673C>T | ENSP00000451208.1:p.Leu225= | |
| ENST00000651307.1:c.778C>T | ENSP00000498454.1:p.Leu260= | |
| ENST00000376197.1:c.628C>T | ENSP00000365369.1:p.Leu210= | |
| ENST00000376199.6:c.673C>T | ENSP00000365372.2:p.Leu225= | |
| ENST00000376207.8:c.778C>T | ENSP00000365380.4:p.Leu260= | |
| ENST00000455775.6:c.847C>T | ENSP00000396415.3:p.Leu283= | |
| ENST00000518685.5:c.673C>T | ENSP00000428952.1:p.Leu225= | |
| ENST00000557224.5:c.673C>T | ENSP00000451208.1:p.Leu225= | |
| NM_001114377.1:c.673C>T | NP_001107849.1:p.Leu225= | |
| NM_014009.3:c.778C>T , LRG_62t1:c.778C>T | NP_054728.2:p.Leu260= | |
| XM_006724533.2:c.847C>T | XP_006724596.2:p.Leu283= | |
| XM_011543915.1:c.997C>T | XP_011542217.1:p.Leu333= | |
| XM_011543916.1:c.997C>T | XP_011542218.1:p.Leu333= | |
| XM_011543917.1:c.796C>T | XP_011542219.1:p.Leu266= | |
| XM_011543918.1:c.1033C>T | XP_011542220.1:p.Leu345= | |
| XM_011543919.1:c.997C>T | XP_011542221.1:p.Leu333= | |
| XM_017029567.1:c.724C>T | XP_016885056.1:p.Leu242= | |
| NM_001114377.2:c.673C>T | NP_001107849.1:p.Leu225= | |
| NM_014009.4:c.778C>T MANE Select | NP_054728.2:p.Leu260= |