Linked Data
ClinVar Variation Id:
529850
dbSNP Id:
rs142479732
ExAC:
5:131724671 C / T
gnomAD v2:
5-131724671-C-T
gnomAD v3:
5-132388979-C-T
gnomAD v4:
5-132388979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132388979C>T , CM000667.2:g.132388979C>T | GRCh38 |
| NC_000005.9:g.131724671C>T , CM000667.1:g.131724671C>T | GRCh37 |
| NC_000005.8:g.131752570C>T | NCBI36 |
| NG_008982.1:g.24271C>T | |
| NG_008982.2:g.24276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.851C>T | ENSP00000388838.2:p.Thr284Ile | |
| ENST00000435065.7:c.1082C>T | ENSP00000402760.2:p.Thr361Ile | |
| ENST00000448810.6:c.1010C>T | ENSP00000401860.2:p.Thr337Ile | |
| ENST00000685543.1:n.1151C>T | ||
| ENST00000686757.1:c.*174C>T | ENSP00000510721.1:n.*174C>T | |
| ENST00000687740.1:n.3695C>T | ||
| ENST00000688151.1:n.2320C>T | ||
| ENST00000689271.1:c.857C>T | ENSP00000510797.1:p.Thr286Ile | |
| ENST00000690900.1:c.*174C>T | ENSP00000510703.1:n.*174C>T | |
| ENST00000692212.1:n.954C>T | ||
| ENST00000692355.1:c.263C>T | ||
| ENST00000692413.1:c.992C>T | ENSP00000509374.1:p.Thr331Ile | |
| ENST00000692825.1:c.1078C>T | ENSP00000509447.1:n.1078C>T | |
| ENST00000693308.1:c.1058C>T | ENSP00000509770.1:p.Thr353Ile | |
| ENST00000693763.1:n.2170C>T | ||
| ENST00000245407.8:c.1010C>T MANE Select | ENSP00000245407.3:p.Thr337Ile | |
| ENST00000245407.7:c.1010C>T | ENSP00000245407.3:p.Thr337Ile | |
| ENST00000435065.6:c.1082C>T | ENSP00000402760.2:p.Thr361Ile | |
| ENST00000437841.6:c.*325C>T | ENSP00000400553.1:n.*325C>T | |
| ENST00000447841.5:c.69C>T | ||
| ENST00000448810.5:c.358C>T | ||
| ENST00000461013.5:n.8432C>T | ||
| ENST00000475308.1:n.20C>T | ||
| ENST00000479605.5:n.113C>T | ||
| NM_001308122.1:c.1082C>T | NP_001295051.1:p.Thr361Ile | |
| NM_003060.3:c.1010C>T | NP_003051.1:p.Thr337Ile | |
| XM_011543590.1:c.392C>T | XP_011541892.1:p.Thr131Ile | |
| XR_427718.1:n.1370C>T | ||
| XR_948290.1:n.1351C>T | ||
| XR_948291.1:n.1364C>T | ||
| XM_011543590.2:c.392C>T | XP_011541892.1:p.Thr131Ile | |
| XM_017009778.2:c.482C>T | XP_016865267.1:p.Thr161Ile | |
| XR_001742215.1:n.1351C>T | ||
| XR_001742216.1:n.1370C>T | ||
| XR_427718.2:n.1370C>T | ||
| XR_948290.2:n.1351C>T | ||
| XR_948291.2:n.1364C>T | ||
| NM_003060.4:c.1010C>T MANE Select | NP_003051.1:p.Thr337Ile | |
| NM_001308122.2:c.1082C>T | NP_001295051.1:p.Thr361Ile |