Linked Data
ClinVar Variation Id:
94386
dbSNP Id:
rs41291450
ExAC:
10:102510598 C / T
gnomAD v2:
10-102510598-C-T
gnomAD v3:
10-100750841-C-T
gnomAD v4:
10-100750841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100750841C>T , CM000672.2:g.100750841C>T | GRCh38 |
| NC_000010.10:g.102510598C>T , CM000672.1:g.102510598C>T | GRCh37 |
| NC_000010.9:g.102500588C>T | NCBI36 |
| NG_008680.1:g.10131C>T | |
| NG_008680.2:g.20133C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.453C>T | ENSP00000516729.1:p.Ala151= | |
| ENST00000707079.1:c.360C>T | ENSP00000516730.1:p.Ala120= | |
| ENST00000355243.8:c.360C>T MANE Select | ENSP00000347385.3:p.Ala120= | |
| ENST00000427256.6:c.360C>T | ENSP00000398652.2:p.Ala120= | |
| ENST00000679374.1:c.342C>T | ENSP00000506041.1:p.Ala114= | |
| ENST00000355243.7:c.360C>T | ENSP00000347385.2:p.Ala120= | |
| ENST00000361791.7:c.357C>T | ENSP00000355069.4:p.Ala119= | |
| ENST00000370296.6:c.360C>T | ENSP00000359319.3:p.Ala120= | |
| ENST00000427256.5:c.360C>T | ENSP00000398652.1:p.Ala120= | |
| ENST00000428433.5:c.360C>T | ENSP00000396259.1:p.Ala120= | |
| ENST00000553492.5:n.131+15108C>T | ||
| ENST00000554172.2:c.372C>T | ENSP00000452489.2:p.Ala124= | |
| ENST00000554363.2:n.125+4538C>T | ||
| NM_000278.3:c.360C>T | NP_000269.2:p.Ala120= | |
| NM_001304569.1:c.453C>T | NP_001291498.1:p.Ala151= | |
| NM_003987.3:c.360C>T | NP_003978.2:p.Ala120= | |
| NM_003988.3:c.360C>T | NP_003979.2:p.Ala120= | |
| NM_003989.3:c.360C>T | NP_003980.2:p.Ala120= | |
| NM_003990.3:c.360C>T | NP_003981.2:p.Ala120= | |
| NM_000278.4:c.360C>T | NP_000269.3:p.Ala120= | |
| NM_003987.4:c.360C>T | NP_003978.3:p.Ala120= | |
| NM_003988.4:c.360C>T | NP_003979.2:p.Ala120= | |
| NM_003989.4:c.360C>T | NP_003980.3:p.Ala120= | |
| NM_003990.4:c.360C>T | NP_003981.3:p.Ala120= | |
| NM_000278.5:c.360C>T MANE Select | NP_000269.3:p.Ala120= | |
| NM_001304569.2:c.453C>T | NP_001291498.1:p.Ala151= | |
| NM_003987.5:c.360C>T | NP_003978.3:p.Ala120= | |
| NM_003988.5:c.360C>T | NP_003979.2:p.Ala120= | |
| NM_003989.5:c.360C>T | NP_003980.3:p.Ala120= | |
| NM_003990.5:c.360C>T | NP_003981.3:p.Ala120= |