Linked Data
ClinVar Variation Id:
1170241
dbSNP Id:
rs2232368
ExAC:
X:49112283 C / T
gnomAD v2:
X-49112283-C-T
gnomAD v3:
X-49255822-C-T
gnomAD v4:
X-49255822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255822C>T , CM000685.2:g.49255822C>T | GRCh38 |
| NC_000023.10:g.49112283C>T , CM000685.1:g.49112283C>T | GRCh37 |
| NC_000023.9:g.48999227C>T | NCBI36 |
| NG_007392.1:g.14006G>A , LRG_62:g.14006G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376199.7:c.543-20G>A | ENSP00000365372.2:n.543-20G>A | |
| ENST00000376207.10:c.648-20G>A MANE Select | ENSP00000365380.4:n.648-20G>A | |
| ENST00000455775.7:c.717-20G>A | ENSP00000396415.3:n.717-20G>A | |
| ENST00000518685.6:c.648-20G>A | ENSP00000428952.2:n.648-20G>A | |
| ENST00000557224.6:c.543-20G>A | ENSP00000451208.1:n.543-20G>A | |
| ENST00000651307.1:c.648-20G>A | ENSP00000498454.1:n.648-20G>A | |
| ENST00000376197.1:c.498-20G>A | ENSP00000365369.1:n.498-20G>A | |
| ENST00000376199.6:c.543-20G>A | ENSP00000365372.2:n.543-20G>A | |
| ENST00000376207.8:c.648-20G>A | ENSP00000365380.4:n.648-20G>A | |
| ENST00000455775.6:c.717-20G>A | ENSP00000396415.3:n.717-20G>A | |
| ENST00000518685.5:c.543-20G>A | ENSP00000428952.1:n.543-20G>A | |
| ENST00000557224.5:c.543-20G>A | ENSP00000451208.1:n.543-20G>A | |
| NM_001114377.1:c.543-20G>A | NP_001107849.1:n.543-20G>A | |
| NM_014009.3:c.648-20G>A , LRG_62t1:c.648-20G>A | NP_054728.2:n.648-20G>A | |
| XM_006724533.2:c.717-20G>A | XP_006724596.2:n.717-20G>A | |
| XM_011543915.1:c.867-20G>A | XP_011542217.1:n.867-20G>A | |
| XM_011543916.1:c.867-20G>A | XP_011542218.1:n.867-20G>A | |
| XM_011543917.1:c.666-20G>A | XP_011542219.1:n.666-20G>A | |
| XM_011543918.1:c.903-20G>A | XP_011542220.1:n.903-20G>A | |
| XM_011543919.1:c.867-20G>A | XP_011542221.1:n.867-20G>A | |
| XM_017029567.1:c.594-20G>A | XP_016885056.1:n.594-20G>A | |
| NM_001114377.2:c.543-20G>A | NP_001107849.1:n.543-20G>A | |
| NM_014009.4:c.648-20G>A MANE Select | NP_054728.2:n.648-20G>A |