Linked Data
ClinVar Variation Id:
966759
ClinVar RCV Id:
RCV001241513
dbSNP Id:
rs1752784173
gnomAD v4:
5-132393741-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393741A>T , CM000667.2:g.132393741A>T | GRCh38 |
| NC_000005.9:g.131729433A>T , CM000667.1:g.131729433A>T | GRCh37 |
| NC_000005.8:g.131757332A>T | NCBI36 |
| NG_008982.1:g.29033A>T | |
| NG_008982.2:g.29038A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-444A>T | ENSP00000388838.2:n.1292-444A>T | |
| ENST00000435065.7:c.1588A>T | ENSP00000402760.2:p.Thr530Ser | |
| ENST00000448810.6:c.*368A>T | ENSP00000401860.2:n.*368A>T | |
| ENST00000685543.1:n.1657A>T | ||
| ENST00000686757.1:c.*680A>T | ENSP00000510721.1:n.*680A>T | |
| ENST00000686868.1:n.508A>T | ||
| ENST00000687740.1:n.4201A>T | ||
| ENST00000688151.1:n.2826A>T | ||
| ENST00000689271.1:c.1363A>T | ENSP00000510797.1:p.Thr455Ser | |
| ENST00000690900.1:c.*680A>T | ENSP00000510703.1:n.*680A>T | |
| ENST00000692212.1:n.4656A>T | ||
| ENST00000692355.1:c.769A>T | ||
| ENST00000692413.1:c.1498A>T | ENSP00000509374.1:p.Thr500Ser | |
| ENST00000692825.1:c.1584A>T | ENSP00000509447.1:n.1584A>T | |
| ENST00000693308.1:c.1564A>T | ENSP00000509770.1:p.Thr522Ser | |
| ENST00000693763.1:n.2676A>T | ||
| ENST00000245407.8:c.1516A>T MANE Select | ENSP00000245407.3:p.Thr506Ser | |
| ENST00000245407.7:c.1516A>T | ENSP00000245407.3:p.Thr506Ser | |
| ENST00000435065.6:c.1588A>T | ENSP00000402760.2:p.Thr530Ser | |
| ENST00000447841.5:c.360A>T | ||
| ENST00000448810.5:c.778A>T | ||
| ENST00000461013.5:n.8938A>T | ||
| ENST00000475308.1:n.2194A>T | ||
| NM_001308122.1:c.1588A>T | NP_001295051.1:p.Thr530Ser | |
| NM_003060.3:c.1516A>T | NP_003051.1:p.Thr506Ser | |
| XM_011543590.1:c.898A>T | XP_011541892.1:p.Thr300Ser | |
| XR_948290.1:n.1642A>T | ||
| XM_011543590.2:c.898A>T | XP_011541892.1:p.Thr300Ser | |
| XM_017009778.2:c.988A>T | XP_016865267.1:p.Thr330Ser | |
| XR_001742215.1:n.1771A>T | ||
| XR_001742216.1:n.1790A>T | ||
| XR_427718.2:n.1876A>T | ||
| XR_948290.2:n.1642A>T | ||
| XR_948291.2:n.1870A>T | ||
| NM_003060.4:c.1516A>T MANE Select | NP_003051.1:p.Thr506Ser | |
| NM_001308122.2:c.1588A>T | NP_001295051.1:p.Thr530Ser |