Linked Data
ClinVar Variation Id:
1549742
ClinVar RCV Id:
RCV002182912
dbSNP Id:
rs2102650545
gnomAD v4:
1-224183396-C-T
MyVariant Identifiers:
chr1:g.224371098C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224183396C>T , CM000663.2:g.224183396C>T | GRCh38 |
| NC_000001.10:g.224371098C>T , CM000663.1:g.224371098C>T | GRCh37 |
| NC_000001.9:g.222437721C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323699.9:c.60C>T MANE Select | ENSP00000316476.4:p.Ala20= | |
| ENST00000323699.8:c.60C>T | ENSP00000316476.4:p.Ala20= | |
| ENST00000391877.3:c.60C>T | ENSP00000375749.3:p.Ala20= | |
| ENST00000415210.5:c.20-6181C>T | ENSP00000400545.1:n.20-6181C>T | |
| NM_003676.3:c.60C>T | NP_003667.1:p.Ala20= | |
| XM_011544317.1:c.60C>T | XP_011542619.1:p.Ala20= | |
| NM_001321541.1:c.60C>T | NP_001308470.1:p.Ala20= | |
| NM_003676.4:c.60C>T MANE Select | NP_003667.1:p.Ala20= | |
| NM_001321541.2:c.60C>T | NP_001308470.1:p.Ala20= |