Linked Data
ClinVar Variation Id:
2688071
ClinVar RCV Id:
RCV003488980
dbSNP Id:
rs1059703
ExAC:
X:153278829 G / A
gnomAD v2:
X-153278829-G-A
gnomAD v3:
X-154013378-G-A
gnomAD v4:
X-154013378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154013378G>A , CM000685.2:g.154013378G>A | GRCh38 |
| NC_000023.10:g.153278829G>A , CM000685.1:g.153278829G>A | GRCh37 |
| NC_000023.9:g.152932023G>A | NCBI36 |
| NG_008387.1:g.11514C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467236.2:n.375C>T | ||
| ENST00000699980.1:n.1139C>T | ||
| ENST00000369980.8:c.1595C>T MANE Select | ENSP00000358997.3:p.Ser532Leu | |
| ENST00000369973.7:c.*538C>T | ENSP00000358990.3:n.*538C>T | |
| ENST00000369974.6:c.1358C>T | ENSP00000358991.2:p.Ser453Leu | |
| ENST00000369980.7:c.1595C>T | ENSP00000358997.3:p.Ser532Leu | |
| ENST00000393687.6:c.1540-35C>T | ENSP00000377291.2:n.1540-35C>T | |
| ENST00000429936.6:c.1618-35C>T | ENSP00000392662.2:n.1618-35C>T | |
| ENST00000437278.5:c.321-35C>T | ||
| ENST00000443220.1:c.840C>T | ||
| ENST00000444230.5:c.529-2262C>T | ENSP00000399974.1:n.529-2262C>T | |
| ENST00000444254.1:c.261C>T | ||
| ENST00000455690.5:c.279+664C>T | ENSP00000411809.1:n.279+664C>T | |
| ENST00000467236.1:n.392C>T | ||
| ENST00000477274.1:n.616-2567C>T | ||
| NM_001025242.1:c.1540-35C>T | NP_001020413.1:n.1540-35C>T | |
| NM_001025243.1:c.1358C>T | NP_001020414.1:p.Ser453Leu | |
| NM_001569.3:c.1595C>T | NP_001560.2:p.Ser532Leu | |
| XM_005274668.2:c.1618-35C>T | XP_005274725.1:n.1618-35C>T | |
| XM_011531158.1:c.1303-35C>T | XP_011529460.1:n.1303-35C>T | |
| XM_005274668.4:c.1618-35C>T | XP_005274725.1:n.1618-35C>T | |
| NM_001569.4:c.1595C>T MANE Select | NP_001560.2:p.Ser532Leu | |
| NM_001025242.2:c.1540-35C>T | NP_001020413.1:n.1540-35C>T | |
| NM_001025243.2:c.1358C>T | NP_001020414.1:p.Ser453Leu |