Linked Data
ClinVar Variation Id:
1667859
ClinVar RCV Id:
RCV002189304
dbSNP Id:
rs781966644
ExAC:
X:49108239 G / A
gnomAD v2:
X-49108239-G-A
gnomAD v4:
X-49251778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251778G>A , CM000685.2:g.49251778G>A | GRCh38 |
| NC_000023.10:g.49108239G>A , CM000685.1:g.49108239G>A | GRCh37 |
| NC_000023.9:g.48995183G>A | NCBI36 |
| NG_007392.1:g.18050C>T , LRG_62:g.18050C>T | |
| NG_021311.2:g.21314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.940-13C>T | ENSP00000365372.2:n.940-13C>T | |
| ENST00000376207.10:c.1045-13C>T MANE Select | ENSP00000365380.4:n.1045-13C>T | |
| ENST00000455775.7:c.1114-13C>T | ENSP00000396415.3:n.1114-13C>T | |
| ENST00000518685.6:c.964-13C>T | ENSP00000428952.2:n.964-13C>T | |
| ENST00000557224.6:c.940-13C>T | ENSP00000451208.1:n.940-13C>T | |
| ENST00000651307.1:c.968-13C>T | ENSP00000498454.1:n.968-13C>T | |
| ENST00000376197.1:c.895-13C>T | ENSP00000365369.1:n.895-13C>T | |
| ENST00000376199.6:c.940-13C>T | ENSP00000365372.2:n.940-13C>T | |
| ENST00000376207.8:c.1045-13C>T | ENSP00000365380.4:n.1045-13C>T | |
| ENST00000455775.6:c.1114-13C>T | ENSP00000396415.3:n.1114-13C>T | |
| ENST00000518685.5:c.940-13C>T | ENSP00000428952.1:n.940-13C>T | |
| ENST00000557224.5:c.940-13C>T | ENSP00000451208.1:n.940-13C>T | |
| NM_001114377.1:c.940-13C>T | NP_001107849.1:n.940-13C>T | |
| NM_014009.3:c.1045-13C>T , LRG_62t1:c.1045-13C>T | NP_054728.2:n.1045-13C>T | |
| XM_006724533.2:c.1114-13C>T | XP_006724596.2:n.1114-13C>T | |
| XM_011543915.1:c.1264-13C>T | XP_011542217.1:n.1264-13C>T | |
| XM_011543916.1:c.1264-13C>T | XP_011542218.1:n.1264-13C>T | |
| XM_011543917.1:c.1063-13C>T | XP_011542219.1:n.1063-13C>T | |
| XM_011543918.1:c.1300-13C>T | XP_011542220.1:n.1300-13C>T | |
| XM_011543919.1:c.1264-13C>T | XP_011542221.1:n.1264-13C>T | |
| XM_017029567.1:c.991-13C>T | XP_016885056.1:n.991-13C>T | |
| NM_001114377.2:c.940-13C>T | NP_001107849.1:n.940-13C>T | |
| NM_014009.4:c.1045-13C>T MANE Select | NP_054728.2:n.1045-13C>T |