Linked Data
ClinVar Variation Id:
1556803
ClinVar RCV Id:
RCV002202398
dbSNP Id:
rs2102713562
gnomAD v4:
1-215728216-A-T
MyVariant Identifiers:
chr1:g.215901558A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728216A>T , CM000663.2:g.215728216A>T | GRCh38 |
| NC_000001.10:g.215901558A>T , CM000663.1:g.215901558A>T | GRCh37 |
| NC_000001.9:g.213968181A>T | NCBI36 |
| NG_009497.1:g.700181T>A | |
| NG_009497.2:g.700233T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11880T>A MANE Select | ENSP00000305941.3:p.Thr3960= | |
| ENST00000674083.1:c.11880T>A | ENSP00000501296.1:p.Thr3960= | |
| ENST00000307340.7:c.11880T>A | ENSP00000305941.3:p.Thr3960= | |
| NM_206933.2:c.11880T>A | NP_996816.2:p.Thr3960= | |
| NM_206933.3:c.11880T>A | NP_996816.2:p.Thr3960= | |
| NM_206933.4:c.11880T>A MANE Select | NP_996816.3:p.Thr3960= |