Linked Data
dbSNP Id:
rs2122668580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047876C>G , CM000682.2:g.23047876C>G | GRCh38 |
| NC_000020.10:g.23028513C>G , CM000682.1:g.23028513C>G | GRCh37 |
| NC_000020.9:g.22976513C>G | NCBI36 |
| NG_012027.1:g.6789G>C , LRG_168:g.6789G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1629G>C MANE Select | ENSP00000366307.2:p.Gln543His | |
| ENST00000377103.2:c.1629G>C | ENSP00000366307.2:p.Gln543His | |
| NM_000361.2:c.1629G>C , LRG_168t1:c.1629G>C | NP_000352.1:p.Gln543His | |
| NM_000361.3:c.1629G>C MANE Select | NP_000352.1:p.Gln543His |