Linked Data
ClinVar Variation Id:
1497185
ClinVar RCV Id:
RCV001992262
dbSNP Id:
rs773035473
ExAC:
20:25371278 G / A
gnomAD v2:
20-25371278-G-A
gnomAD v3:
20-25390642-G-A
gnomAD v4:
20-25390642-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25390642G>A , CM000682.2:g.25390642G>A | GRCh38 |
| NC_000020.10:g.25371278G>A , CM000682.1:g.25371278G>A | GRCh37 |
| NC_000020.9:g.25319278G>A | NCBI36 |
| NG_028119.1:g.5341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.62C>T MANE Select | ENSP00000341408.5:p.Ser21Phe | |
| ENST00000376542.8:c.62C>T | ENSP00000365725.3:p.Ser21Phe | |
| ENST00000339157.9:c.62C>T | ENSP00000341408.5:p.Ser21Phe | |
| ENST00000376542.7:c.62C>T | ENSP00000365725.3:p.Ser21Phe | |
| ENST00000461204.1:c.62C>T | ENSP00000460249.1:p.Ser21Phe | |
| NM_001042472.2:c.62C>T | NP_001035937.1:p.Ser21Phe | |
| NM_015600.4:c.62C>T | NP_056415.1:p.Ser21Phe | |
| XM_005260698.1:c.62C>T | XP_005260755.1:p.Ser21Phe | |
| XM_005260699.3:c.62C>T | XP_005260756.1:p.Ser21Phe | |
| XM_011529214.1:c.62C>T | XP_011527516.1:p.Ser21Phe | |
| XM_011529215.1:c.-530C>T | XP_011527517.1:n.-530C>T | |
| XM_011529214.2:c.62C>T | XP_011527516.1:p.Ser21Phe | |
| XM_017027796.1:c.-530C>T | XP_016883285.1:n.-530C>T | |
| XM_017027797.2:c.62C>T | XP_016883286.1:p.Ser21Phe | |
| XR_002958465.1:n.72C>T | ||
| XR_002958466.1:n.72C>T | ||
| NM_001042472.3:c.62C>T MANE Select | NP_001035937.1:p.Ser21Phe | |
| NM_015600.5:c.62C>T | NP_056415.1:p.Ser21Phe |