Linked Data
ClinVar Variation Id:
234019
dbSNP Id:
rs758784300
ExAC:
11:111965570 C / T
gnomAD v2:
11-111965570-C-T
gnomAD v4:
11-112094846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094846C>T , CM000673.2:g.112094846C>T | GRCh38 |
| NC_000011.9:g.111965570C>T , CM000673.1:g.111965570C>T | GRCh37 |
| NC_000011.8:g.111470780C>T | NCBI36 |
| NG_012337.2:g.13000C>T | |
| NG_012337.3:g.13000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*95C>T | ENSP00000432946.2:n.*95C>T | |
| ENST00000534010.2:c.314+5835C>T | ENSP00000433202.2:n.314+5835C>T | |
| ENST00000375549.8:c.356C>T MANE Select | ENSP00000364699.3:p.Ala119Val | |
| ENST00000528021.6:c.314+5835C>T | ENSP00000432465.1:n.314+5835C>T | |
| ENST00000375549.7:c.356C>T | ENSP00000364699.3:p.Ala119Val | |
| ENST00000525291.5:c.239C>T | ENSP00000436669.1:p.Ala80Val | |
| ENST00000525987.5:n.319+5835C>T | ||
| ENST00000526592.5:c.*54C>T | ENSP00000432005.1:n.*54C>T | |
| ENST00000528021.5:c.314+5835C>T | ENSP00000432465.1:n.314+5835C>T | |
| ENST00000528048.5:c.211C>T | ENSP00000436217.1:p.Pro71Ser | |
| ENST00000528182.5:c.349C>T | ENSP00000435475.1:p.Pro117Ser | |
| ENST00000530923.5:c.400C>T | ||
| ENST00000531744.5:c.314+5835C>T | ENSP00000456957.1:n.314+5835C>T | |
| ENST00000532699.1:c.314+5835C>T | ENSP00000456434.1:n.314+5835C>T | |
| ENST00000534010.1:c.145+5835C>T | ||
| NM_001276503.1:c.211C>T | NP_001263432.1:p.Pro71Ser | |
| NM_001276504.1:c.239C>T | NP_001263433.1:p.Ala80Val | |
| NM_001276506.1:c.*54C>T | NP_001263435.1:n.*54C>T | |
| NM_003002.3:c.356C>T | NP_002993.1:p.Ala119Val | |
| NR_077060.1:n.494C>T | ||
| NM_003002.4:c.356C>T MANE Select | NP_002993.1:p.Ala119Val | |
| NM_001276503.2:c.211C>T | NP_001263432.1:p.Pro71Ser | |
| NM_001276504.2:c.239C>T | NP_001263433.1:p.Ala80Val | |
| NM_001276506.2:c.*54C>T | NP_001263435.1:n.*54C>T | |
| NR_077060.2:n.445C>T |