Linked Data
ClinVar Variation Id:
317170
dbSNP Id:
rs553718554
ExAC:
15:77310511 C / T
gnomAD v2:
15-77310511-C-T
gnomAD v3:
15-77018170-C-T
gnomAD v4:
15-77018170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77018170C>T , CM000677.2:g.77018170C>T | GRCh38 |
| NC_000015.9:g.77310511C>T , CM000677.1:g.77310511C>T | GRCh37 |
| NC_000015.8:g.75097566C>T | NCBI36 |
| NG_007526.1:g.28047C>T , LRG_172:g.28047C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.41-9688C>T | ||
| ENST00000697623.1:n.407C>T | ||
| ENST00000558012.6:c.59C>T MANE Select | ENSP00000452746.1:p.Thr20Met | |
| ENST00000379595.7:c.59C>T | ENSP00000368914.3:p.Thr20Met | |
| ENST00000558012.5:c.59C>T | ENSP00000452746.1:p.Thr20Met | |
| ENST00000558407.5:c.254C>T | ENSP00000453268.1:p.Thr85Met | |
| ENST00000559161.5:c.59C>T | ENSP00000453372.1:p.Thr20Met | |
| ENST00000559295.5:c.59C>T | ENSP00000452743.1:p.Thr20Met | |
| ENST00000559750.5:c.59C>T | ENSP00000453531.1:p.Thr20Met | |
| ENST00000559785.5:c.254C>T | ENSP00000452986.1:p.Thr85Met | |
| ENST00000559795.5:n.507C>T | ||
| ENST00000559859.5:c.32C>T | ENSP00000453218.1:p.Thr11Met | |
| ENST00000560223.5:c.*161C>T | ENSP00000454118.1:n.*161C>T | |
| ENST00000560377.5:n.248C>T | ||
| ENST00000560621.5:n.271C>T | ||
| ENST00000560796.5:c.-44C>T | ENSP00000454127.1:n.-44C>T | |
| NM_003978.3:c.59C>T , LRG_172t1:c.59C>T | NP_003969.2:p.Thr20Met | |
| XM_006720737.2:c.-360C>T | XP_006720800.1:n.-360C>T | |
| XM_011522163.1:c.59C>T | XP_011520465.1:p.Thr20Met | |
| XM_011522164.1:c.-44C>T | XP_011520466.1:n.-44C>T | |
| XM_011522166.1:c.59C>T | XP_011520468.1:p.Thr20Met | |
| XM_011522167.1:c.59C>T | XP_011520469.1:p.Thr20Met | |
| XM_011522168.1:c.59C>T | XP_011520470.1:p.Thr20Met | |
| XM_011522169.1:c.59C>T | XP_011520471.1:p.Thr20Met | |
| XM_011522171.1:c.-297C>T | XP_011520473.1:n.-297C>T | |
| XM_011522172.1:c.-349C>T | XP_011520474.1:n.-349C>T | |
| XR_931936.1:n.509C>T | ||
| XR_931937.1:n.509C>T | ||
| XR_931938.1:n.509C>T | ||
| XR_931939.1:n.509C>T | ||
| XR_931940.1:n.509C>T | ||
| NM_001321135.1:c.59C>T | NP_001308064.1:p.Thr20Met | |
| NM_001321136.1:c.32C>T | NP_001308065.1:p.Thr11Met | |
| NM_001321137.1:c.254C>T | NP_001308066.1:p.Thr85Met | |
| NM_003978.4:c.59C>T | NP_003969.2:p.Thr20Met | |
| NR_135552.1:n.548C>T | ||
| XM_006720737.3:c.-360C>T | XP_006720800.1:n.-360C>T | |
| XM_011522163.2:c.59C>T | XP_011520465.1:p.Thr20Met | |
| XM_011522166.2:c.59C>T | XP_011520468.1:p.Thr20Met | |
| XM_011522167.2:c.59C>T | XP_011520469.1:p.Thr20Met | |
| XM_011522168.3:c.59C>T | XP_011520470.1:p.Thr20Met | |
| XM_011522169.2:c.59C>T | XP_011520471.1:p.Thr20Met | |
| XR_931936.2:n.507C>T | ||
| XR_931937.2:n.507C>T | ||
| XR_931938.2:n.507C>T | ||
| XR_931939.2:n.507C>T | ||
| NM_001321135.2:c.59C>T | NP_001308064.1:p.Thr20Met | |
| NM_001321136.2:c.32C>T | NP_001308065.1:p.Thr11Met | |
| NM_003978.5:c.59C>T MANE Select | NP_003969.2:p.Thr20Met | |
| NR_135552.2:n.507C>T |