Linked Data
dbSNP Id:
rs782220435
ExAC:
X:53407535 C / A
gnomAD v2:
X-53407535-C-A
gnomAD v4:
X-53380614-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380614C>A , CM000685.2:g.53380614C>A | GRCh38 |
| NC_000023.10:g.53407535C>A , CM000685.1:g.53407535C>A | GRCh37 |
| NC_000023.9:g.53424260C>A | NCBI36 |
| NG_006988.2:g.47057G>T , LRG_773:g.47057G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3618+6G>T MANE Select | ENSP00000323421.3:n.3618+6G>T | |
| ENST00000674590.1:c.2850+6G>T | ENSP00000502626.1:n.2850+6G>T | |
| ENST00000675504.1:c.3552+6G>T | ENSP00000502524.1:n.3552+6G>T | |
| ENST00000322213.8:c.3618+6G>T | ENSP00000323421.3:n.3618+6G>T | |
| ENST00000375340.10:c.3552+6G>T | ENSP00000364489.7:n.3552+6G>T | |
| NM_001281463.1:c.3552+6G>T , LRG_773t1:c.3552+6G>T | NP_001268392.1:n.3552+6G>T | |
| NM_006306.3:c.3618+6G>T , LRG_773t2:c.3618+6G>T | NP_006297.2:n.3618+6G>T | |
| NM_006306.4:c.3618+6G>T MANE Select | NP_006297.2:n.3618+6G>T |