Linked Data
ClinVar Variation Id:
426359
dbSNP Id:
rs150544263
ExAC:
5:131724704 T / A
gnomAD v2:
5-131724704-T-A
gnomAD v3:
5-132389012-T-A
gnomAD v4:
5-132389012-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132389012T>A , CM000667.2:g.132389012T>A | GRCh38 |
| NC_000005.9:g.131724704T>A , CM000667.1:g.131724704T>A | GRCh37 |
| NC_000005.8:g.131752603T>A | NCBI36 |
| NG_008982.1:g.24304T>A | |
| NG_008982.2:g.24309T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.884T>A | ENSP00000388838.2:p.Ile295Lys | |
| ENST00000435065.7:c.1115T>A | ENSP00000402760.2:p.Ile372Lys | |
| ENST00000448810.6:c.1043T>A | ENSP00000401860.2:p.Ile348Lys | |
| ENST00000685543.1:n.1184T>A | ||
| ENST00000686757.1:c.*207T>A | ENSP00000510721.1:n.*207T>A | |
| ENST00000687740.1:n.3728T>A | ||
| ENST00000688151.1:n.2353T>A | ||
| ENST00000689271.1:c.890T>A | ENSP00000510797.1:p.Ile297Lys | |
| ENST00000690900.1:c.*207T>A | ENSP00000510703.1:n.*207T>A | |
| ENST00000692212.1:n.987T>A | ||
| ENST00000692355.1:c.296T>A | ||
| ENST00000692413.1:c.1025T>A | ENSP00000509374.1:p.Ile342Lys | |
| ENST00000692825.1:c.1111T>A | ENSP00000509447.1:n.1111T>A | |
| ENST00000693308.1:c.1091T>A | ENSP00000509770.1:p.Ile364Lys | |
| ENST00000693763.1:n.2203T>A | ||
| ENST00000245407.8:c.1043T>A MANE Select | ENSP00000245407.3:p.Ile348Lys | |
| ENST00000245407.7:c.1043T>A | ENSP00000245407.3:p.Ile348Lys | |
| ENST00000435065.6:c.1115T>A | ENSP00000402760.2:p.Ile372Lys | |
| ENST00000447841.5:c.102T>A | ||
| ENST00000448810.5:c.391T>A | ||
| ENST00000461013.5:n.8465T>A | ||
| ENST00000475308.1:n.53T>A | ||
| ENST00000479605.5:n.146T>A | ||
| NM_001308122.1:c.1115T>A | NP_001295051.1:p.Ile372Lys | |
| NM_003060.3:c.1043T>A | NP_003051.1:p.Ile348Lys | |
| XM_011543590.1:c.425T>A | XP_011541892.1:p.Ile142Lys | |
| XR_427718.1:n.1403T>A | ||
| XR_948290.1:n.1384T>A | ||
| XR_948291.1:n.1397T>A | ||
| XM_011543590.2:c.425T>A | XP_011541892.1:p.Ile142Lys | |
| XM_017009778.2:c.515T>A | XP_016865267.1:p.Ile172Lys | |
| XR_001742215.1:n.1384T>A | ||
| XR_001742216.1:n.1403T>A | ||
| XR_427718.2:n.1403T>A | ||
| XR_948290.2:n.1384T>A | ||
| XR_948291.2:n.1397T>A | ||
| NM_003060.4:c.1043T>A MANE Select | NP_003051.1:p.Ile348Lys | |
| NM_001308122.2:c.1115T>A | NP_001295051.1:p.Ile372Lys |