Linked Data
ClinVar Variation Id:
376098
ClinVar RCV Id:
RCV000440360
dbSNP Id:
rs1057519759
COSMIC:
COSM131562
ERepo:
CA16602559/MONDO:0012163/119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873495A>T , CM000667.2:g.35873495A>T | GRCh38 |
| NC_000005.9:g.35873597A>T , CM000667.1:g.35873597A>T | GRCh37 |
| NC_000005.8:g.35909354A>T | NCBI36 |
| NG_009567.1:g.21607A>T , LRG_74:g.21607A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.553A>T MANE Select | ENSP00000306157.3:p.Ser185Cys | |
| ENST00000303115.7:c.553A>T | ENSP00000306157.3:p.Ser185Cys | |
| ENST00000506850.5:c.553A>T | ENSP00000421207.1:p.Ser185Cys | |
| ENST00000509668.1:n.295A>T | ||
| ENST00000514217.5:c.538-2017A>T | ENSP00000427688.1:n.538-2017A>T | |
| NM_002185.3:c.553A>T | NP_002176.2:p.Ser185Cys | |
| NR_120485.1:n.641-2017A>T | ||
| XM_005248299.2:c.553A>T | XP_005248356.1:p.Ser185Cys | |
| XM_005248300.1:c.553A>T | XP_005248357.1:p.Ser185Cys | |
| XM_011514037.1:c.553A>T | XP_011512339.1:p.Ser185Cys | |
| NM_002185.4:c.553A>T | NP_002176.2:p.Ser185Cys | |
| NR_120485.2:n.667-2017A>T | ||
| XM_005248299.4:c.553A>T | XP_005248356.1:p.Ser185Cys | |
| NM_002185.5:c.553A>T MANE Select | NP_002176.2:p.Ser185Cys | |
| NR_120485.3:n.625-2017A>T |