Linked Data
dbSNP Id:
rs367565954
ExAC:
1:204131225 C / G
gnomAD v2:
1-204131225-C-G
gnomAD v4:
1-204162097-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162097C>G , CM000663.2:g.204162097C>G | GRCh38 |
| NC_000001.10:g.204131225C>G , CM000663.1:g.204131225C>G | GRCh37 |
| NC_000001.9:g.202397848C>G | NCBI36 |
| NG_012122.1:g.9241G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.165G>C MANE Select | ENSP00000272190.8:p.Arg55Ser | |
| ENST00000638118.1:c.51G>C | ENSP00000490307.1:p.Arg17Ser | |
| ENST00000272190.8:c.165G>C | ENSP00000272190.8:p.Arg55Ser | |
| NM_000537.3:c.165G>C | NP_000528.1:p.Arg55Ser | |
| NM_000537.4:c.165G>C MANE Select | NP_000528.1:p.Arg55Ser |