Linked Data
ClinVar Variation Id:
1106412
ClinVar RCV Id:
RCV001431162
dbSNP Id:
rs1752553633
gnomAD v4:
5-132387017-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387017A>T , CM000667.2:g.132387017A>T | GRCh38 |
| NC_000005.9:g.131722709A>T , CM000667.1:g.131722709A>T | GRCh37 |
| NC_000005.8:g.131750608A>T | NCBI36 |
| NG_008982.1:g.22309A>T | |
| NG_008982.2:g.22314A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.666-8A>T | ENSP00000388838.2:n.666-8A>T | |
| ENST00000435065.7:c.897-8A>T | ENSP00000402760.2:n.897-8A>T | |
| ENST00000448810.6:c.825-8A>T | ENSP00000401860.2:n.825-8A>T | |
| ENST00000686757.1:c.844-8A>T | ENSP00000510721.1:n.844-8A>T | |
| ENST00000687740.1:n.3502A>T | ||
| ENST00000688151.1:n.2135-8A>T | ||
| ENST00000689271.1:c.672-8A>T | ENSP00000510797.1:n.672-8A>T | |
| ENST00000690900.1:c.796-8A>T | ENSP00000510703.1:n.796-8A>T | |
| ENST00000692212.1:n.769-8A>T | ||
| ENST00000692355.1:c.205-1904A>T | ||
| ENST00000692413.1:c.844-45A>T | ENSP00000509374.1:n.844-45A>T | |
| ENST00000692825.1:c.893-8A>T | ENSP00000509447.1:n.893-8A>T | |
| ENST00000693308.1:c.865A>T | ENSP00000509770.1:p.Thr289Ser | |
| ENST00000693763.1:n.1985-8A>T | ||
| ENST00000245407.8:c.825-8A>T MANE Select | ENSP00000245407.3:n.825-8A>T | |
| ENST00000245407.7:c.825-8A>T | ENSP00000245407.3:n.825-8A>T | |
| ENST00000415928.5:c.594-8A>T | ENSP00000388838.1:n.594-8A>T | |
| ENST00000435065.6:c.897-8A>T | ENSP00000402760.2:n.897-8A>T | |
| ENST00000437841.6:c.*140-8A>T | ENSP00000400553.1:n.*140-8A>T | |
| ENST00000448810.5:c.173-8A>T | ||
| ENST00000461013.5:n.8247-8A>T | ||
| NM_001308122.1:c.897-8A>T | NP_001295051.1:n.897-8A>T | |
| NM_003060.3:c.825-8A>T | NP_003051.1:n.825-8A>T | |
| XM_011543590.1:c.207-8A>T | XP_011541892.1:n.207-8A>T | |
| XR_427718.1:n.1185-8A>T | ||
| XR_948290.1:n.1166-8A>T | ||
| XR_948291.1:n.1179-8A>T | ||
| XM_011543590.2:c.207-8A>T | XP_011541892.1:n.207-8A>T | |
| XM_017009778.2:c.297-8A>T | XP_016865267.1:n.297-8A>T | |
| XR_001742215.1:n.1166-8A>T | ||
| XR_001742216.1:n.1185-8A>T | ||
| XR_427718.2:n.1185-8A>T | ||
| XR_948290.2:n.1166-8A>T | ||
| XR_948291.2:n.1179-8A>T | ||
| NM_003060.4:c.825-8A>T MANE Select | NP_003051.1:n.825-8A>T | |
| NM_001308122.2:c.897-8A>T | NP_001295051.1:n.897-8A>T |