Linked Data
ClinVar Variation Id:
460421
dbSNP Id:
rs200697217
ExAC:
5:131722836 C / T
gnomAD v2:
5-131722836-C-T
gnomAD v3:
5-132387144-C-T
gnomAD v4:
5-132387144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387144C>T , CM000667.2:g.132387144C>T | GRCh38 |
| NC_000005.9:g.131722836C>T , CM000667.1:g.131722836C>T | GRCh37 |
| NC_000005.8:g.131750735C>T | NCBI36 |
| NG_008982.1:g.22436C>T | |
| NG_008982.2:g.22441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.785C>T | ENSP00000388838.2:p.Pro262Leu | |
| ENST00000435065.7:c.1016C>T | ENSP00000402760.2:p.Pro339Leu | |
| ENST00000448810.6:c.944C>T | ENSP00000401860.2:p.Pro315Leu | |
| ENST00000686757.1:c.*108C>T | ENSP00000510721.1:n.*108C>T | |
| ENST00000687740.1:n.3629C>T | ||
| ENST00000688151.1:n.2254C>T | ||
| ENST00000689271.1:c.791C>T | ENSP00000510797.1:p.Pro264Leu | |
| ENST00000690900.1:c.*108C>T | ENSP00000510703.1:n.*108C>T | |
| ENST00000692212.1:n.888C>T | ||
| ENST00000692355.1:c.205-1777C>T | ||
| ENST00000692413.1:c.926C>T | ENSP00000509374.1:p.Pro309Leu | |
| ENST00000692825.1:c.1012C>T | ENSP00000509447.1:n.1012C>T | |
| ENST00000693308.1:c.992C>T | ENSP00000509770.1:p.Pro331Leu | |
| ENST00000693763.1:n.2104C>T | ||
| ENST00000245407.8:c.944C>T MANE Select | ENSP00000245407.3:p.Pro315Leu | |
| ENST00000245407.7:c.944C>T | ENSP00000245407.3:p.Pro315Leu | |
| ENST00000415928.5:c.713C>T | ENSP00000388838.1:p.Pro238Leu | |
| ENST00000435065.6:c.1016C>T | ENSP00000402760.2:p.Pro339Leu | |
| ENST00000437841.6:c.*259C>T | ENSP00000400553.1:n.*259C>T | |
| ENST00000448810.5:c.292C>T | ||
| ENST00000461013.5:n.8366C>T | ||
| NM_001308122.1:c.1016C>T | NP_001295051.1:p.Pro339Leu | |
| NM_003060.3:c.944C>T | NP_003051.1:p.Pro315Leu | |
| XM_011543590.1:c.326C>T | XP_011541892.1:p.Pro109Leu | |
| XR_427718.1:n.1304C>T | ||
| XR_948290.1:n.1285C>T | ||
| XR_948291.1:n.1298C>T | ||
| XM_011543590.2:c.326C>T | XP_011541892.1:p.Pro109Leu | |
| XM_017009778.2:c.416C>T | XP_016865267.1:p.Pro139Leu | |
| XR_001742215.1:n.1285C>T | ||
| XR_001742216.1:n.1304C>T | ||
| XR_427718.2:n.1304C>T | ||
| XR_948290.2:n.1285C>T | ||
| XR_948291.2:n.1298C>T | ||
| NM_003060.4:c.944C>T MANE Select | NP_003051.1:p.Pro315Leu | |
| NM_001308122.2:c.1016C>T | NP_001295051.1:p.Pro339Leu |