Linked Data
ClinVar Variation Id:
1454197
ClinVar RCV Id:
RCV001941749
dbSNP Id:
rs376017740
ExAC:
2:233398754 C / T
gnomAD v2:
2-233398754-C-T
gnomAD v4:
2-232534044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534044C>T , CM000664.2:g.232534044C>T | GRCh38 |
| NC_000002.11:g.233398754C>T , CM000664.1:g.233398754C>T | GRCh37 |
| NC_000002.10:g.233106998C>T | NCBI36 |
| NG_008028.1:g.12833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1161C>T MANE Select | ENSP00000258385.3:p.Ala387= | |
| ENST00000258385.7:c.1161C>T | ENSP00000258385.3:p.Ala387= | |
| ENST00000441621.6:c.*343C>T | ENSP00000408819.2:n.*343C>T | |
| ENST00000446616.1:c.*802C>T | ENSP00000410801.1:n.*802C>T | |
| ENST00000543200.5:c.1116C>T | ENSP00000438380.1:p.Ala372= | |
| NM_000751.2:c.1161C>T | NP_000742.1:p.Ala387= | |
| NM_001256657.1:c.1116C>T | NP_001243586.1:p.Ala372= | |
| NM_001311195.1:c.579C>T | NP_001298124.1:p.Ala193= | |
| NM_001311196.1:c.858C>T | NP_001298125.1:p.Ala286= | |
| NR_046333.1:c.-4294966390C>T | ||
| NR_046334.1:c.-4294966111C>T | ||
| XM_011510524.1:c.780C>T | XP_011508826.1:p.Ala260= | |
| XM_011510524.2:c.780C>T | XP_011508826.1:p.Ala260= | |
| NM_000751.3:c.1161C>T MANE Select | NP_000742.1:p.Ala387= | |
| NM_001311195.2:c.579C>T | NP_001298124.1:p.Ala193= | |
| NM_001311196.2:c.858C>T | NP_001298125.1:p.Ala286= | |
| NM_001256657.2:c.1116C>T | NP_001243586.1:p.Ala372= |