Linked Data
ClinVar Variation Id:
264643
ClinVar RCV Id:
RCV000508638
dbSNP Id:
rs1555961574
gnomAD v3:
X-70452685-T-G
gnomAD v4:
X-70452685-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70452685T>G , CM000685.2:g.70452685T>G | GRCh38 |
| NC_000023.10:g.69672535T>G , CM000685.1:g.69672535T>G | GRCh37 |
| NC_000023.9:g.69589260T>G | NCBI36 |
| NG_015849.1:g.12831T>G | |
| NG_015849.2:g.12831T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374355.8:c.64T>G | ENSP00000363475.3:p.Ser22Ala | |
| ENST00000374360.8:c.1145+659T>G MANE Select | ENSP00000363480.3:n.1145+659T>G | |
| ENST00000194900.8:c.1199+659T>G | ENSP00000194900.4:n.1199+659T>G | |
| ENST00000374355.7:c.64T>G | ENSP00000363475.3:p.Ser22Ala | |
| ENST00000374360.7:c.1145+659T>G | ENSP00000363480.3:n.1145+659T>G | |
| ENST00000463252.5:n.1544+659T>G | ||
| NM_020730.2:c.64T>G | NP_065781.1:p.Ser22Ala | |
| NM_021120.3:c.1145+659T>G | NP_066943.2:n.1145+659T>G | |
| XM_005262248.2:c.-305+149T>G | XP_005262305.1:n.-305+149T>G | |
| XM_006724625.2:c.1145+659T>G | XP_006724688.1:n.1145+659T>G | |
| XM_006724626.2:c.1145+659T>G | XP_006724689.1:n.1145+659T>G | |
| XM_011530883.1:c.1145+659T>G | XP_011529185.1:n.1145+659T>G | |
| XM_005262248.4:c.-305+149T>G | XP_005262305.1:n.-305+149T>G | |
| XM_017029322.2:c.64T>G | XP_016884811.1:p.Ser22Ala | |
| XM_017029323.2:c.64T>G | XP_016884812.1:p.Ser22Ala | |
| XM_017029324.2:c.64T>G | XP_016884813.1:p.Ser22Ala | |
| NM_021120.4:c.1145+659T>G MANE Select | NP_066943.2:n.1145+659T>G | |
| NM_020730.3:c.64T>G | NP_065781.1:p.Ser22Ala |