Linked Data
dbSNP Id:
rs1363927278
gnomAD v3:
X-49255258-G-A
gnomAD v4:
X-49255258-G-A
MyVariant Identifiers:
chrX:g.49255258G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255258G>A , CM000685.2:g.49255258G>A | GRCh38 |
| NC_000023.10:g.49111719G>A , CM000685.1:g.49111719G>A | GRCh37 |
| NC_000023.9:g.48998663G>A | NCBI36 |
| NG_007392.1:g.14570C>T , LRG_62:g.14570C>T | |
| NG_021311.2:g.24794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.711+171C>T | ENSP00000365372.2:n.711+171C>T | |
| ENST00000376207.10:c.816+171C>T MANE Select | ENSP00000365380.4:n.816+171C>T | |
| ENST00000455775.7:c.885+171C>T | ENSP00000396415.3:n.885+171C>T | |
| ENST00000518685.6:c.735+457C>T | ENSP00000428952.2:n.735+457C>T | |
| ENST00000557224.6:c.711+171C>T | ENSP00000451208.1:n.711+171C>T | |
| ENST00000651307.1:c.816+171C>T | ENSP00000498454.1:n.816+171C>T | |
| ENST00000376197.1:c.666+171C>T | ENSP00000365369.1:n.666+171C>T | |
| ENST00000376199.6:c.711+171C>T | ENSP00000365372.2:n.711+171C>T | |
| ENST00000376207.8:c.816+171C>T | ENSP00000365380.4:n.816+171C>T | |
| ENST00000455775.6:c.885+171C>T | ENSP00000396415.3:n.885+171C>T | |
| ENST00000518685.5:c.711+171C>T | ENSP00000428952.1:n.711+171C>T | |
| ENST00000557224.5:c.711+171C>T | ENSP00000451208.1:n.711+171C>T | |
| NM_001114377.1:c.711+171C>T | NP_001107849.1:n.711+171C>T | |
| NM_014009.3:c.816+171C>T , LRG_62t1:c.816+171C>T | NP_054728.2:n.816+171C>T | |
| XM_006724533.2:c.885+171C>T | XP_006724596.2:n.885+171C>T | |
| XM_011543915.1:c.1035+171C>T | XP_011542217.1:n.1035+171C>T | |
| XM_011543916.1:c.1035+171C>T | XP_011542218.1:n.1035+171C>T | |
| XM_011543917.1:c.834+171C>T | XP_011542219.1:n.834+171C>T | |
| XM_011543918.1:c.1071+171C>T | XP_011542220.1:n.1071+171C>T | |
| XM_011543919.1:c.1035+171C>T | XP_011542221.1:n.1035+171C>T | |
| XM_017029567.1:c.762+171C>T | XP_016885056.1:n.762+171C>T | |
| NM_001114377.2:c.711+171C>T | NP_001107849.1:n.711+171C>T | |
| NM_014009.4:c.816+171C>T MANE Select | NP_054728.2:n.816+171C>T |