Linked Data
dbSNP Id:
rs770276799
ExAC:
6:31590624 C / T
gnomAD v2:
6-31590624-C-T
gnomAD v4:
6-31622847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622847C>T , CM000668.2:g.31622847C>T | GRCh38 |
| NC_000006.11:g.31590624C>T , CM000668.1:g.31590624C>T | GRCh37 |
| NC_000006.10:g.31698603C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.74C>T | ENSP00000516471.1:p.Ala25Val | |
| ENST00000376033.3:c.58C>T MANE Select | ENSP00000365201.2:p.Leu20Phe | |
| ENST00000376007.8:c.58C>T | ENSP00000365175.4:p.Leu20Phe | |
| ENST00000376033.2:c.58C>T | ENSP00000365201.2:p.Leu20Phe | |
| ENST00000469577.5:n.136-1414C>T | ||
| NM_004638.3:c.58C>T | NP_004629.3:p.Leu20Phe | |
| NM_080686.2:c.58C>T | NP_542417.2:p.Leu20Phe | |
| XM_011514890.1:c.58C>T | XP_011513192.1:p.Leu20Phe | |
| XM_017011274.1:c.58C>T | XP_016866763.1:p.Leu20Phe | |
| NM_004638.4:c.58C>T MANE Select | NP_004629.3:p.Leu20Phe | |
| NM_080686.3:c.58C>T | NP_542417.2:p.Leu20Phe |