Linked Data
ClinVar Variation Id:
1741946
dbSNP Id:
rs1378954192
gnomAD v2:
11-111965675-C-T
gnomAD v4:
11-112094951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094951C>T , CM000673.2:g.112094951C>T | GRCh38 |
| NC_000011.9:g.111965675C>T , CM000673.1:g.111965675C>T | GRCh37 |
| NC_000011.8:g.111470885C>T | NCBI36 |
| NG_012337.2:g.13105C>T | |
| NG_012337.3:g.13105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*200C>T | ENSP00000432946.2:n.*200C>T | |
| ENST00000534010.2:c.314+5940C>T | ENSP00000433202.2:n.314+5940C>T | |
| ENST00000375549.8:c.461C>T MANE Select | ENSP00000364699.3:p.Ala154Val | |
| ENST00000528021.6:c.314+5940C>T | ENSP00000432465.1:n.314+5940C>T | |
| ENST00000375549.7:c.461C>T | ENSP00000364699.3:p.Ala154Val | |
| ENST00000525291.5:c.344C>T | ENSP00000436669.1:p.Ala115Val | |
| ENST00000525987.5:n.319+5940C>T | ||
| ENST00000526592.5:c.*159C>T | ENSP00000432005.1:n.*159C>T | |
| ENST00000528021.5:c.314+5940C>T | ENSP00000432465.1:n.314+5940C>T | |
| ENST00000528048.5:c.*58C>T | ENSP00000436217.1:n.*58C>T | |
| ENST00000528182.5:c.*58C>T | ENSP00000435475.1:n.*58C>T | |
| ENST00000530923.5:c.505C>T | ||
| ENST00000531744.5:c.314+5940C>T | ENSP00000456957.1:n.314+5940C>T | |
| ENST00000532699.1:c.314+5940C>T | ENSP00000456434.1:n.314+5940C>T | |
| ENST00000534010.1:c.145+5940C>T | ||
| NM_001276503.1:c.*58C>T | NP_001263432.1:n.*58C>T | |
| NM_001276504.1:c.344C>T | NP_001263433.1:p.Ala115Val | |
| NM_001276506.1:c.*159C>T | NP_001263435.1:n.*159C>T | |
| NM_003002.3:c.461C>T | NP_002993.1:p.Ala154Val | |
| NR_077060.1:n.599C>T | ||
| NM_003002.4:c.461C>T MANE Select | NP_002993.1:p.Ala154Val | |
| NM_001276503.2:c.*58C>T | NP_001263432.1:n.*58C>T | |
| NM_001276504.2:c.344C>T | NP_001263433.1:p.Ala115Val | |
| NM_001276506.2:c.*159C>T | NP_001263435.1:n.*159C>T | |
| NR_077060.2:n.550C>T |