Linked Data
ClinVar Variation Id:
424138
ClinVar RCV Id:
RCV000485365
dbSNP Id:
rs1064796819
gnomAD v4:
X-48902796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902796G>A , CM000685.2:g.48902796G>A | GRCh38 |
| NC_000023.10:g.48760073G>A , CM000685.1:g.48760073G>A | GRCh37 |
| NC_000023.9:g.48645017G>A | NCBI36 |
| NG_015967.1:g.9879G>A | |
| NG_015968.2:g.354C>T | |
| NG_034300.1:g.14163C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218224.9:c.641+1G>A | ENSP00000218224.4:n.641+1G>A | |
| ENST00000376563.6:c.641+1G>A | ENSP00000365747.1:n.641+1G>A | |
| ENST00000396763.6:c.641+1G>A | ENSP00000379985.1:n.641+1G>A | |
| ENST00000443648.6:c.641+1G>A | ENSP00000414861.2:n.641+1G>A | |
| ENST00000456306.2:c.32+1G>A | ENSP00000393013.2:n.32+1G>A | |
| ENST00000472742.6:c.*58+1G>A | ENSP00000509191.1:n.*58+1G>A | |
| ENST00000473764.6:n.1471G>A | ||
| ENST00000474671.6:n.1665G>A | ||
| ENST00000477997.6:n.1590+1G>A | ||
| ENST00000486150.6:n.1765G>A | ||
| ENST00000692023.1:c.*1062+1G>A | ENSP00000509927.1:n.*1062+1G>A | |
| ENST00000447146.7:c.641+1G>A MANE Select | ENSP00000391759.2:n.641+1G>A | |
| ENST00000651767.1:c.641+1G>A | ENSP00000498362.1:n.641+1G>A | |
| ENST00000218224.8:c.641+1G>A | ENSP00000218224.4:n.641+1G>A | |
| ENST00000247140.8:c.356+1G>A | ENSP00000247140.4:n.356+1G>A | |
| ENST00000376563.5:c.641+1G>A | ENSP00000365747.1:n.641+1G>A | |
| ENST00000376566.8:c.356+1G>A | ENSP00000365750.4:n.356+1G>A | |
| ENST00000396763.5:c.641+1G>A | ENSP00000379985.1:n.641+1G>A | |
| ENST00000447146.6:c.641+1G>A | ENSP00000391759.2:n.641+1G>A | |
| ENST00000456306.1:c.322+1G>A | ||
| ENST00000463529.4:n.856G>A | ||
| ENST00000465859.2:n.655+1G>A | ||
| ENST00000470059.5:n.855+1G>A | ||
| ENST00000470062.5:n.613+1G>A | ||
| ENST00000473764.5:n.1213+1G>A | ||
| ENST00000474671.5:n.701+1G>A | ||
| ENST00000477997.5:n.722+1G>A | ||
| NM_001032381.1:c.641+1G>A | NP_001027553.1:n.641+1G>A | |
| NM_001032382.1:c.641+1G>A | NP_001027554.1:n.641+1G>A | |
| NM_001032383.1:c.641+1G>A | NP_001027555.1:n.641+1G>A | |
| NM_001032384.1:c.641+1G>A | NP_001027556.1:n.641+1G>A | |
| NM_001167989.1:c.638+1G>A | NP_001161461.1:n.638+1G>A | |
| NM_001167990.1:c.617+1G>A | NP_001161462.1:n.617+1G>A | |
| NM_001167992.1:c.341+1G>A | NP_001161464.1:n.341+1G>A | |
| NM_005710.2:c.641+1G>A | NP_005701.1:n.641+1G>A | |
| NM_144495.2:c.356+1G>A | NP_652766.1:n.356+1G>A | |
| XM_005272571.3:c.638+1G>A | XP_005272628.1:n.638+1G>A | |
| XM_005272572.3:c.356+1G>A | XP_005272629.1:n.356+1G>A | |
| XM_011543884.1:c.641+1G>A | XP_011542186.1:n.641+1G>A | |
| XM_005272572.4:c.356+1G>A | XP_005272629.1:n.356+1G>A | |
| XM_011543884.2:c.641+1G>A | XP_011542186.1:n.641+1G>A | |
| XM_017029207.1:c.638+1G>A | XP_016884696.1:n.638+1G>A | |
| NM_001032381.2:c.641+1G>A | NP_001027553.1:n.641+1G>A | |
| NM_001032382.2:c.641+1G>A MANE Select | NP_001027554.1:n.641+1G>A | |
| NM_001032383.2:c.641+1G>A | NP_001027555.1:n.641+1G>A | |
| NM_001167989.2:c.638+1G>A | NP_001161461.1:n.638+1G>A | |
| NM_001167990.2:c.617+1G>A | NP_001161462.1:n.617+1G>A | |
| NM_144495.3:c.356+1G>A | NP_652766.1:n.356+1G>A |