Linked Data
dbSNP Id:
rs200356285
ExAC:
6:31602918 C / T
gnomAD v2:
6-31602918-C-T
gnomAD v3:
6-31635141-C-T
gnomAD v4:
6-31635141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635141C>T , CM000668.2:g.31635141C>T | GRCh38 |
| NC_000006.11:g.31602918C>T , CM000668.1:g.31602918C>T | GRCh37 |
| NC_000006.10:g.31710897C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5170C>T MANE Select | ENSP00000365201.2:p.Arg1724Trp | |
| ENST00000376007.8:c.5170C>T | ENSP00000365175.4:p.Arg1724Trp | |
| ENST00000376033.2:c.5170C>T | ENSP00000365201.2:p.Arg1724Trp | |
| ENST00000484787.1:n.581C>T | ||
| NM_004638.3:c.5170C>T | NP_004629.3:p.Arg1724Trp | |
| NM_080686.2:c.5170C>T | NP_542417.2:p.Arg1724Trp | |
| XM_011514890.1:c.5170C>T | XP_011513192.1:p.Arg1724Trp | |
| XM_017011274.1:c.5170C>T | XP_016866763.1:p.Arg1724Trp | |
| NM_004638.4:c.5170C>T MANE Select | NP_004629.3:p.Arg1724Trp | |
| NM_080686.3:c.5170C>T | NP_542417.2:p.Arg1724Trp |