Linked Data
dbSNP Id:
rs1253489582
gnomAD v2:
20-23028447-G-A
gnomAD v3:
20-23047810-G-A
gnomAD v4:
20-23047810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047810G>A , CM000682.2:g.23047810G>A | GRCh38 |
| NC_000020.10:g.23028447G>A , CM000682.1:g.23028447G>A | GRCh37 |
| NC_000020.9:g.22976447G>A | NCBI36 |
| NG_012027.1:g.6855C>T , LRG_168:g.6855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1695C>T MANE Select | ENSP00000366307.2:p.His565= | |
| ENST00000377103.2:c.1695C>T | ENSP00000366307.2:p.His565= | |
| NM_000361.2:c.1695C>T , LRG_168t1:c.1695C>T | NP_000352.1:p.His565= | |
| NM_000361.3:c.1695C>T MANE Select | NP_000352.1:p.His565= |