Linked Data
ClinVar Variation Id:
220380
dbSNP Id:
rs762032846
ExAC:
7:75932128 C / T
gnomAD v2:
7-75932128-C-T
gnomAD v4:
7-76302811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76302811C>T , CM000669.2:g.76302811C>T | GRCh38 |
| NC_000007.13:g.75932128C>T , CM000669.1:g.75932128C>T | GRCh37 |
| NC_000007.12:g.75770064C>T | NCBI36 |
| NG_008995.1:g.5254C>T , LRG_248:g.5254C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248553.7:c.99C>T MANE Select | ENSP00000248553.6:p.Phe33= | |
| ENST00000674547.1:c.99C>T | ENSP00000502461.1:p.Phe33= | |
| ENST00000674560.1:n.139C>T | ||
| ENST00000674638.1:c.99C>T | ENSP00000502651.1:p.Phe33= | |
| ENST00000674650.1:c.99C>T | ENSP00000501628.1:p.Phe33= | |
| ENST00000674965.1:c.99C>T | ENSP00000501765.1:p.Phe33= | |
| ENST00000675134.1:c.99C>T | ENSP00000501831.1:p.Phe33= | |
| ENST00000675226.1:c.99C>T | ENSP00000502510.1:p.Phe33= | |
| ENST00000675488.1:n.139C>T | ||
| ENST00000675538.1:c.99C>T | ENSP00000502495.1:p.Phe33= | |
| ENST00000675624.1:n.139C>T | ||
| ENST00000675733.1:n.139C>T | ||
| ENST00000675906.1:c.99C>T | ENSP00000502714.1:p.Phe33= | |
| ENST00000676231.1:c.99C>T | ENSP00000502249.1:p.Phe33= | |
| ENST00000676398.1:n.139C>T | ||
| ENST00000248553.6:c.99C>T | ENSP00000248553.6:p.Phe33= | |
| ENST00000447574.1:c.99C>T | ENSP00000414357.1:p.Phe33= | |
| NM_001540.3:c.99C>T , LRG_248t1:c.99C>T | NP_001531.1:p.Phe33= | |
| NM_001540.4:c.99C>T | NP_001531.1:p.Phe33= | |
| NM_001540.5:c.99C>T MANE Select | NP_001531.1:p.Phe33= |