Linked Data
dbSNP Id:
rs1663482755
gnomAD v3:
1-206116702-G-T
gnomAD v4:
1-206116702-G-T
MyVariant Identifiers:
chr1:g.206224629C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116702G>T , CM000663.2:g.206116702G>T | GRCh38 |
| NC_000001.10:g.206224629C>A , CM000663.1:g.206224629C>A | GRCh37 |
| NC_000001.9:g.204391252C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.189C>A MANE Select | ENSP00000356094.4:p.Gly63= | |
| ENST00000367126.4:c.189C>A | ENSP00000356094.4:p.Gly63= | |
| ENST00000612906.1:n.36+962C>A | ||
| NM_000707.3:c.189C>A | NP_000698.1:p.Gly63= | |
| NM_000707.4:c.189C>A | NP_000698.1:p.Gly63= | |
| NM_000707.5:c.189C>A MANE Select | NP_000698.1:p.Gly63= |