Linked Data
ClinVar Variation Id:
2822037
ClinVar RCV Id:
RCV003625361
dbSNP Id:
rs1557116149
gnomAD v2:
X-49111890-C-T
gnomAD v4:
X-49255429-C-T
COSMIC:
COSM3769687
MyVariant Identifiers:
chrX:g.49111890C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255429C>T , CM000685.2:g.49255429C>T | GRCh38 |
| NC_000023.10:g.49111890C>T , CM000685.1:g.49111890C>T | GRCh37 |
| NC_000023.9:g.48998834C>T | NCBI36 |
| NG_007392.1:g.14399G>A , LRG_62:g.14399G>A | |
| NG_021311.2:g.24965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.711G>A | ENSP00000365372.2:p.Val237= | |
| ENST00000376207.10:c.816G>A MANE Select | ENSP00000365380.4:p.Val272= | |
| ENST00000455775.7:c.885G>A | ENSP00000396415.3:p.Val295= | |
| ENST00000518685.6:c.735+286G>A | ENSP00000428952.2:n.735+286G>A | |
| ENST00000557224.6:c.711G>A | ENSP00000451208.1:p.Val237= | |
| ENST00000651307.1:c.816G>A | ENSP00000498454.1:p.Val272= | |
| ENST00000376197.1:c.666G>A | ENSP00000365369.1:p.Val222= | |
| ENST00000376199.6:c.711G>A | ENSP00000365372.2:p.Val237= | |
| ENST00000376207.8:c.816G>A | ENSP00000365380.4:p.Val272= | |
| ENST00000455775.6:c.885G>A | ENSP00000396415.3:p.Val295= | |
| ENST00000518685.5:c.711G>A | ENSP00000428952.1:p.Val237= | |
| ENST00000557224.5:c.711G>A | ENSP00000451208.1:p.Val237= | |
| NM_001114377.1:c.711G>A | NP_001107849.1:p.Val237= | |
| NM_014009.3:c.816G>A , LRG_62t1:c.816G>A | NP_054728.2:p.Val272= | |
| XM_006724533.2:c.885G>A | XP_006724596.2:p.Val295= | |
| XM_011543915.1:c.1035G>A | XP_011542217.1:p.Val345= | |
| XM_011543916.1:c.1035G>A | XP_011542218.1:p.Val345= | |
| XM_011543917.1:c.834G>A | XP_011542219.1:p.Val278= | |
| XM_011543918.1:c.1071G>A | XP_011542220.1:p.Val357= | |
| XM_011543919.1:c.1035G>A | XP_011542221.1:p.Val345= | |
| XM_017029567.1:c.762G>A | XP_016885056.1:p.Val254= | |
| NM_001114377.2:c.711G>A | NP_001107849.1:p.Val237= | |
| NM_014009.4:c.816G>A MANE Select | NP_054728.2:p.Val272= |