Linked Data
ClinVar Variation Id:
1668165
ClinVar RCV Id:
RCV002191652
dbSNP Id:
rs1282015269
gnomAD v2:
5-131722732-C-T
gnomAD v4:
5-132387040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387040C>T , CM000667.2:g.132387040C>T | GRCh38 |
| NC_000005.9:g.131722732C>T , CM000667.1:g.131722732C>T | GRCh37 |
| NC_000005.8:g.131750631C>T | NCBI36 |
| NG_008982.1:g.22332C>T | |
| NG_008982.2:g.22337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.681C>T | ENSP00000388838.2:p.Ser227= | |
| ENST00000435065.7:c.912C>T | ENSP00000402760.2:p.Ser304= | |
| ENST00000448810.6:c.840C>T | ENSP00000401860.2:p.Ser280= | |
| ENST00000686757.1:c.*4C>T | ENSP00000510721.1:n.*4C>T | |
| ENST00000687740.1:n.3525C>T | ||
| ENST00000688151.1:n.2150C>T | ||
| ENST00000689271.1:c.687C>T | ENSP00000510797.1:p.Ser229= | |
| ENST00000690900.1:c.*4C>T | ENSP00000510703.1:n.*4C>T | |
| ENST00000692212.1:n.784C>T | ||
| ENST00000692355.1:c.205-1881C>T | ||
| ENST00000692413.1:c.844-22C>T | ENSP00000509374.1:n.844-22C>T | |
| ENST00000692825.1:c.908C>T | ENSP00000509447.1:n.908C>T | |
| ENST00000693308.1:c.888C>T | ENSP00000509770.1:p.Ser296= | |
| ENST00000693763.1:n.2000C>T | ||
| ENST00000245407.8:c.840C>T MANE Select | ENSP00000245407.3:p.Ser280= | |
| ENST00000245407.7:c.840C>T | ENSP00000245407.3:p.Ser280= | |
| ENST00000415928.5:c.609C>T | ENSP00000388838.1:p.Ser203= | |
| ENST00000435065.6:c.912C>T | ENSP00000402760.2:p.Ser304= | |
| ENST00000437841.6:c.*155C>T | ENSP00000400553.1:n.*155C>T | |
| ENST00000448810.5:c.188C>T | ||
| ENST00000461013.5:n.8262C>T | ||
| NM_001308122.1:c.912C>T | NP_001295051.1:p.Ser304= | |
| NM_003060.3:c.840C>T | NP_003051.1:p.Ser280= | |
| XM_011543590.1:c.222C>T | XP_011541892.1:p.Ser74= | |
| XR_427718.1:n.1200C>T | ||
| XR_948290.1:n.1181C>T | ||
| XR_948291.1:n.1194C>T | ||
| XM_011543590.2:c.222C>T | XP_011541892.1:p.Ser74= | |
| XM_017009778.2:c.312C>T | XP_016865267.1:p.Ser104= | |
| XR_001742215.1:n.1181C>T | ||
| XR_001742216.1:n.1200C>T | ||
| XR_427718.2:n.1200C>T | ||
| XR_948290.2:n.1181C>T | ||
| XR_948291.2:n.1194C>T | ||
| NM_003060.4:c.840C>T MANE Select | NP_003051.1:p.Ser280= | |
| NM_001308122.2:c.912C>T | NP_001295051.1:p.Ser304= |