Linked Data
dbSNP Id:
rs757093180
ExAC:
3:119132839 C / G
gnomAD v2:
3-119132839-C-G
gnomAD v4:
3-119413992-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413992C>G , CM000665.2:g.119413992C>G | GRCh38 |
| NC_000003.11:g.119132839C>G , CM000665.1:g.119132839C>G | GRCh37 |
| NC_000003.10:g.120615529C>G | NCBI36 |
| NG_007665.2:g.124620C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2063C>G MANE Select | ENSP00000264245.4:p.Ser688Trp | |
| ENST00000264245.8:c.2063C>G | ENSP00000264245.4:p.Ser688Trp | |
| NM_020754.3:c.2063C>G | NP_065805.2:p.Ser688Trp | |
| XM_005247671.3:c.1970C>G | XP_005247728.1:p.Ser657Trp | |
| XM_006713714.2:c.2003C>G | XP_006713777.1:p.Ser668Trp | |
| XM_006713714.3:c.2003C>G | XP_006713777.1:p.Ser668Trp | |
| XM_017006955.1:c.1571C>G | XP_016862444.1:p.Ser524Trp | |
| NM_020754.4:c.2063C>G MANE Select | NP_065805.2:p.Ser688Trp |