Linked Data
dbSNP Id:
rs778467861
gnomAD v4:
1-230690040-T-C
MyVariant Identifiers:
chr1:g.230825786T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690040T>C , CM000663.2:g.230690040T>C | GRCh38 |
| NC_000001.10:g.230825786T>C , CM000663.1:g.230825786T>C | GRCh37 |
| NC_000001.9:g.228892409T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1821T>C MANE Select | ENSP00000355629.4:p.Tyr607= | |
| ENST00000366668.7:c.1818T>C | ENSP00000355628.3:p.Tyr606= | |
| ENST00000366669.8:c.1821T>C | ENSP00000355629.4:p.Tyr607= | |
| ENST00000468893.6:c.*1679T>C | ENSP00000476305.1:n.*1679T>C | |
| ENST00000478710.1:n.80T>C | ||
| ENST00000490900.1:n.600T>C | ||
| ENST00000534989.1:c.1644T>C | ENSP00000440349.1:p.Tyr548= | |
| NM_001145036.1:c.1818T>C | NP_001138508.1:p.Tyr606= | |
| NM_007357.2:c.1821T>C | NP_031383.1:p.Tyr607= | |
| NM_007357.3:c.1821T>C MANE Select | NP_031383.1:p.Tyr607= | |
| NM_001145036.2:c.1818T>C | NP_001138508.1:p.Tyr606= |