Linked Data
ClinVar Variation Id:
213451
dbSNP Id:
rs56102764
ExAC:
X:153583046 G / A
gnomAD v2:
X-153583046-G-A
gnomAD v3:
X-154354678-G-A
gnomAD v4:
X-154354678-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154354678G>A , CM000685.2:g.154354678G>A | GRCh38 |
| NC_000023.10:g.153583046G>A , CM000685.1:g.153583046G>A | GRCh37 |
| NC_000023.9:g.153236240G>A | NCBI36 |
| NG_011506.1:g.24961C>T | |
| NG_011506.2:g.24961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.5227C>T | ENSP00000353467.4:p.Pro1743Ser | |
| ENST00000369850.10:c.5251C>T MANE Select | ENSP00000358866.3:p.Pro1751Ser | |
| ENST00000369856.8:c.5170C>T | ENSP00000358872.4:p.Pro1724Ser | |
| ENST00000422373.6:c.3161-2003C>T | ENSP00000416926.2:n.3161-2003C>T | |
| ENST00000610817.5:c.5308C>T | ENSP00000480593.2:n.5308C>T | |
| ENST00000673639.2:c.280-5988C>T | ||
| ENST00000676696.1:c.5530C>T | ENSP00000503392.1:n.5530C>T | |
| ENST00000678304.1:n.430C>T | ||
| ENST00000344736.8:c.5193+147C>T | ENSP00000358863.3:n.5193+147C>T | |
| ENST00000360319.8:c.5227C>T | ENSP00000353467.4:p.Pro1743Ser | |
| ENST00000369850.7:c.5251C>T | ENSP00000358866.3:p.Pro1751Ser | |
| ENST00000369856.7:c.5170C>T | ENSP00000358872.4:p.Pro1724Ser | |
| ENST00000420627.5:c.5207C>T | ENSP00000408921.1:n.5207C>T | |
| ENST00000422373.5:c.5227C>T | ENSP00000416926.1:p.Pro1743Ser | |
| ENST00000438732.2:c.99C>T | ||
| ENST00000474072.1:n.3C>T | ||
| ENST00000490936.5:n.1240C>T | ||
| ENST00000610817.4:c.5170C>T | ENSP00000480593.1:p.Pro1724Ser | |
| NM_001110556.1:c.5251C>T | NP_001104026.1:p.Pro1751Ser | |
| NM_001456.3:c.5227C>T | NP_001447.2:p.Pro1743Ser | |
| XM_011531127.1:c.5217+147C>T | XP_011529429.1:n.5217+147C>T | |
| XM_011531128.1:c.5193+147C>T | XP_011529430.1:n.5193+147C>T | |
| XM_011531129.1:c.5251C>T | XP_011529431.1:p.Pro1751Ser | |
| XM_011531130.1:c.5227C>T | XP_011529432.1:p.Pro1743Ser | |
| XM_011531131.1:c.5050C>T | XP_011529433.1:p.Pro1684Ser | |
| NM_001110556.2:c.5251C>T MANE Select | NP_001104026.1:p.Pro1751Ser | |
| NM_001456.4:c.5227C>T | NP_001447.2:p.Pro1743Ser |