Linked Data
ClinVar Variation Id:
25396
ClinVar RCV Id:
RCV000507691
dbSNP Id:
rs386134206
gnomAD v3:
5-132385367-C-T
gnomAD v4:
5-132385367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385367C>T , CM000667.2:g.132385367C>T | GRCh38 |
| NC_000005.9:g.131721059C>T , CM000667.1:g.131721059C>T | GRCh37 |
| NC_000005.8:g.131748958C>T | NCBI36 |
| NG_008982.1:g.20659C>T | |
| NG_008982.2:g.20664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1053C>T | ENSP00000388838.2:n.665+1053C>T | |
| ENST00000435065.7:c.764C>T | ENSP00000402760.2:p.Ser255Phe | |
| ENST00000448810.6:c.692C>T | ENSP00000401860.2:p.Ser231Phe | |
| ENST00000686757.1:c.711C>T | ENSP00000510721.1:p.Leu237= | |
| ENST00000687740.1:n.1852C>T | ||
| ENST00000688151.1:n.1884C>T | ||
| ENST00000689271.1:c.671+1047C>T | ENSP00000510797.1:n.671+1047C>T | |
| ENST00000690900.1:c.672-9C>T | ENSP00000510703.1:n.672-9C>T | |
| ENST00000692212.1:n.518C>T | ||
| ENST00000692355.1:c.204+1066C>T | ||
| ENST00000692413.1:c.711C>T | ENSP00000509374.1:p.Leu237= | |
| ENST00000692825.1:c.760C>T | ENSP00000509447.1:n.760C>T | |
| ENST00000693308.1:c.705C>T | ENSP00000509770.1:p.Leu235= | |
| ENST00000693763.1:n.1852C>T | ||
| ENST00000245407.8:c.692C>T MANE Select | ENSP00000245407.3:p.Ser231Phe | |
| ENST00000245407.7:c.692C>T | ENSP00000245407.3:p.Ser231Phe | |
| ENST00000415928.5:c.461C>T | ENSP00000388838.1:p.Ser154Phe | |
| ENST00000435065.6:c.764C>T | ENSP00000402760.2:p.Ser255Phe | |
| ENST00000437841.6:c.*7C>T | ENSP00000400553.1:n.*7C>T | |
| ENST00000448810.5:c.40C>T | ||
| ENST00000461013.5:n.8114C>T | ||
| NM_001308122.1:c.764C>T | NP_001295051.1:p.Ser255Phe | |
| NM_003060.3:c.692C>T | NP_003051.1:p.Ser231Phe | |
| XM_011543590.1:c.74C>T | XP_011541892.1:p.Ser25Phe | |
| XR_427718.1:n.1052C>T | ||
| XR_948290.1:n.1033C>T | ||
| XR_948291.1:n.1046C>T | ||
| XM_011543590.2:c.74C>T | XP_011541892.1:p.Ser25Phe | |
| XM_017009778.2:c.164C>T | XP_016865267.1:p.Ser55Phe | |
| XR_001742215.1:n.1033C>T | ||
| XR_001742216.1:n.1052C>T | ||
| XR_427718.2:n.1052C>T | ||
| XR_948290.2:n.1033C>T | ||
| XR_948291.2:n.1046C>T | ||
| NM_003060.4:c.692C>T MANE Select | NP_003051.1:p.Ser231Phe | |
| NM_001308122.2:c.764C>T | NP_001295051.1:p.Ser255Phe |