Linked Data
dbSNP Id:
rs1231401760
gnomAD v2:
6-31590578-C-T
gnomAD v3:
6-31622801-C-T
gnomAD v4:
6-31622801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622801C>T , CM000668.2:g.31622801C>T | GRCh38 |
| NC_000006.11:g.31590578C>T , CM000668.1:g.31590578C>T | GRCh37 |
| NC_000006.10:g.31698557C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.28C>T | ENSP00000516471.1:p.Leu10Phe | |
| ENST00000376033.3:c.12C>T MANE Select | ENSP00000365201.2:p.Arg4= | |
| ENST00000376007.8:c.12C>T | ENSP00000365175.4:p.Arg4= | |
| ENST00000376033.2:c.12C>T | ENSP00000365201.2:p.Arg4= | |
| ENST00000469577.5:n.136-1460C>T | ||
| NM_004638.3:c.12C>T | NP_004629.3:p.Arg4= | |
| NM_080686.2:c.12C>T | NP_542417.2:p.Arg4= | |
| XM_011514890.1:c.12C>T | XP_011513192.1:p.Arg4= | |
| XM_017011274.1:c.12C>T | XP_016866763.1:p.Arg4= | |
| NM_004638.4:c.12C>T MANE Select | NP_004629.3:p.Arg4= | |
| NM_080686.3:c.12C>T | NP_542417.2:p.Arg4= |