Linked Data
ClinVar Variation Id:
225403
dbSNP Id:
rs201249971
ExAC:
3:185237080 A / T
gnomAD v2:
3-185237080-A-T
gnomAD v3:
3-185519292-A-T
gnomAD v4:
3-185519292-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185519292A>T , CM000665.2:g.185519292A>T | GRCh38 |
| NC_000003.11:g.185237080A>T , CM000665.1:g.185237080A>T | GRCh37 |
| NC_000003.10:g.186719774A>T | NCBI36 |
| NG_012183.1:g.38290T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296252.9:c.736T>A MANE Select | ENSP00000296252.4:p.Cys246Ser | |
| ENST00000296252.8:c.736T>A | ENSP00000296252.4:p.Cys246Ser | |
| ENST00000424591.6:c.634T>A | ENSP00000396384.2:p.Cys212Ser | |
| ENST00000452897.1:c.108T>A | ||
| NM_139248.2:c.736T>A | NP_640341.1:p.Cys246Ser | |
| XM_006713529.2:c.646T>A | XP_006713592.1:p.Cys216Ser | |
| XM_011512530.1:c.607T>A | XP_011510832.1:p.Cys203Ser | |
| XM_011512531.1:c.607T>A | XP_011510833.1:p.Cys203Ser | |
| XM_006713529.4:c.646T>A | XP_006713592.1:p.Cys216Ser | |
| XM_011512530.3:c.607T>A | XP_011510832.1:p.Cys203Ser | |
| XM_011512531.3:c.607T>A | XP_011510833.1:p.Cys203Ser | |
| XM_017005852.2:c.634T>A | XP_016861341.1:p.Cys212Ser | |
| NM_139248.3:c.736T>A MANE Select | NP_640341.1:p.Cys246Ser |