Linked Data
ClinVar Variation Id:
437809
ClinVar RCV Id:
RCV000503096
dbSNP Id:
rs115816653
ExAC:
6:99322269 C / A
gnomAD v2:
6-99322269-C-A
gnomAD v3:
6-98874393-C-A
gnomAD v4:
6-98874393-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874393C>A , CM000668.2:g.98874393C>A | GRCh38 |
| NC_000006.11:g.99322269C>A , CM000668.1:g.99322269C>A | GRCh37 |
| NC_000006.10:g.99428990C>A | NCBI36 |
| NG_033903.1:g.78614G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1751G>T MANE Select | ENSP00000358247.1:p.Cys584Phe | |
| ENST00000229971.2:c.1751G>T | ENSP00000229971.1:p.Cys584Phe | |
| ENST00000369244.6:c.1751G>T | ENSP00000358247.1:p.Cys584Phe | |
| NM_001278716.1:c.1751G>T | NP_001265645.1:p.Cys584Phe | |
| NM_012160.4:c.1751G>T | NP_036292.2:p.Cys584Phe | |
| NR_103836.1:n.1796G>T | ||
| XM_005266930.1:c.1679G>T | XP_005266987.1:p.Cys560Phe | |
| XM_005266930.3:c.1679G>T | XP_005266987.1:p.Cys560Phe | |
| XM_017010726.1:c.1751G>T | XP_016866215.1:p.Cys584Phe | |
| XM_017010727.2:c.1679G>T | XP_016866216.1:p.Cys560Phe | |
| XM_017010728.1:c.1025G>T | XP_016866217.1:p.Cys342Phe | |
| NM_001278716.2:c.1751G>T MANE Select | NP_001265645.1:p.Cys584Phe | |
| NR_103836.2:n.1736G>T | ||
| NM_012160.5:c.1751G>T | NP_036292.2:p.Cys584Phe |