Linked Data
ClinVar Variation Id:
372731
ClinVar RCV Id:
RCV000414381
dbSNP Id:
rs1057517951
gnomAD v4:
X-48517259-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48517259T>C , CM000685.2:g.48517259T>C | GRCh38 |
| NC_000023.10:g.48375647T>C , CM000685.1:g.48375647T>C | GRCh37 |
| NC_000023.9:g.48260591T>C | NCBI36 |
| NG_007452.1:g.484T>C | |
| NG_009278.1:g.13277T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367574.9:c.1217T>C | ENSP00000356546.6:p.Phe406Ser | |
| ENST00000537758.6:c.1217T>C | ENSP00000446401.3:p.Phe406Ser | |
| ENST00000682661.1:n.2842T>C | ||
| ENST00000683804.1:n.1527T>C | ||
| ENST00000683923.1:c.1217T>C | ENSP00000506737.1:p.Phe406Ser | |
| ENST00000684722.1:n.2804T>C | ||
| ENST00000326194.11:c.1250T>C MANE Select | ENSP00000322304.6:p.Phe417Ser | |
| ENST00000485288.7:c.*885T>C | ENSP00000420445.3:n.*885T>C | |
| ENST00000326194.10:c.1250T>C | ENSP00000322304.6:p.Phe417Ser | |
| ENST00000355092.4:c.1082T>C | ENSP00000347207.4:p.Phe361Ser | |
| ENST00000355961.8:c.1235T>C | ENSP00000348233.4:p.Phe412Ser | |
| ENST00000359882.8:c.1232T>C | ENSP00000352946.4:p.Phe411Ser | |
| ENST00000361988.7:c.1217T>C | ENSP00000354978.3:p.Phe406Ser | |
| ENST00000367574.8:c.1232T>C | ENSP00000356546.5:p.Phe411Ser | |
| ENST00000472520.5:c.*558T>C | ENSP00000419858.1:n.*558T>C | |
| ENST00000485288.6:c.*885T>C | ENSP00000420445.2:n.*885T>C | |
| ENST00000491243.5:n.1646T>C | ||
| ENST00000537758.5:c.1235T>C | ENSP00000446401.2:p.Phe412Ser | |
| NM_001282167.1:c.1004T>C | NP_001269096.1:p.Phe335Ser | |
| NM_022825.3:c.1217T>C | NP_073736.2:p.Phe406Ser | |
| NM_203473.2:c.1235T>C | NP_982299.1:p.Phe412Ser | |
| NM_203474.1:c.1232T>C | NP_982300.1:p.Phe411Ser | |
| NM_203475.2:c.1250T>C | NP_982301.1:p.Phe417Ser | |
| XM_005272635.1:c.1574T>C | XP_005272692.1:p.Phe525Ser | |
| XM_005272636.1:c.1556T>C | XP_005272693.1:p.Phe519Ser | |
| XM_005272637.1:c.1502T>C | XP_005272694.1:p.Phe501Ser | |
| XM_006724544.2:c.1355T>C | XP_006724607.1:p.Phe452Ser | |
| XM_006724545.2:c.1301T>C | XP_006724608.1:p.Phe434Ser | |
| XM_006724546.2:c.1250T>C | XP_006724609.1:p.Phe417Ser | |
| XM_006724547.1:c.1037T>C | XP_006724610.1:p.Phe346Ser | |
| XM_011543948.1:c.1004T>C | XP_011542250.1:p.Phe335Ser | |
| NM_001282167.2:c.1004T>C | NP_001269096.1:p.Phe335Ser | |
| NM_022825.4:c.1217T>C | NP_073736.2:p.Phe406Ser | |
| NM_203473.3:c.1235T>C | NP_982299.1:p.Phe412Ser | |
| NM_203475.3:c.1250T>C MANE Select | NP_982301.1:p.Phe417Ser |