Linked Data
ClinVar Variation Id:
1571096
ClinVar RCV Id:
RCV002217448
dbSNP Id:
rs2126789694
gnomAD v4:
5-132390768-C-T
MyVariant Identifiers:
chr5:g.131726460C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390768C>T , CM000667.2:g.132390768C>T | GRCh38 |
| NC_000005.9:g.131726460C>T , CM000667.1:g.131726460C>T | GRCh37 |
| NC_000005.8:g.131754359C>T | NCBI36 |
| NG_008982.1:g.26060C>T | |
| NG_008982.2:g.26065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.972C>T | ENSP00000388838.2:p.Phe324= | |
| ENST00000435065.7:c.1203C>T | ENSP00000402760.2:p.Phe401= | |
| ENST00000448810.6:c.1053-8C>T | ENSP00000401860.2:n.1053-8C>T | |
| ENST00000685543.1:n.1272C>T | ||
| ENST00000686757.1:c.*295C>T | ENSP00000510721.1:n.*295C>T | |
| ENST00000687740.1:n.3816C>T | ||
| ENST00000688151.1:n.2441C>T | ||
| ENST00000689271.1:c.978C>T | ENSP00000510797.1:p.Phe326= | |
| ENST00000690900.1:c.*295C>T | ENSP00000510703.1:n.*295C>T | |
| ENST00000692212.1:n.2743C>T | ||
| ENST00000692355.1:c.384C>T | ||
| ENST00000692413.1:c.1113C>T | ENSP00000509374.1:p.Phe371= | |
| ENST00000692825.1:c.1199C>T | ENSP00000509447.1:n.1199C>T | |
| ENST00000693308.1:c.1179C>T | ENSP00000509770.1:p.Phe393= | |
| ENST00000693763.1:n.2291C>T | ||
| ENST00000245407.8:c.1131C>T MANE Select | ENSP00000245407.3:p.Phe377= | |
| ENST00000245407.7:c.1131C>T | ENSP00000245407.3:p.Phe377= | |
| ENST00000435065.6:c.1203C>T | ENSP00000402760.2:p.Phe401= | |
| ENST00000447841.5:c.112-1665C>T | ||
| ENST00000448810.5:c.401-8C>T | ||
| ENST00000461013.5:n.8553C>T | ||
| ENST00000475308.1:n.1809C>T | ||
| ENST00000479605.5:n.234C>T | ||
| NM_001308122.1:c.1203C>T | NP_001295051.1:p.Phe401= | |
| NM_003060.3:c.1131C>T | NP_003051.1:p.Phe377= | |
| XM_011543590.1:c.513C>T | XP_011541892.1:p.Phe171= | |
| XR_427718.1:n.1491C>T | ||
| XR_948290.1:n.1394-1665C>T | ||
| XR_948291.1:n.1485C>T | ||
| XM_011543590.2:c.513C>T | XP_011541892.1:p.Phe171= | |
| XM_017009778.2:c.603C>T | XP_016865267.1:p.Phe201= | |
| XR_001742215.1:n.1394-8C>T | ||
| XR_001742216.1:n.1413-8C>T | ||
| XR_427718.2:n.1491C>T | ||
| XR_948290.2:n.1394-1665C>T | ||
| XR_948291.2:n.1485C>T | ||
| NM_003060.4:c.1131C>T MANE Select | NP_003051.1:p.Phe377= | |
| NM_001308122.2:c.1203C>T | NP_001295051.1:p.Phe401= |