Linked Data
dbSNP Id:
rs527236156
gnomAD v3:
17-21703981-C-T
gnomAD v4:
17-21703981-C-T
MyVariant Identifiers:
chr17:g.21703981C>T (hg38)
PubMed:
PMID:20301512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.21703981C>T , CM000679.2:g.21703981C>T | GRCh38 |
| NG_033093.1:g.16459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567955.3:c.1195C>T MANE Select | ENSP00000457807.2:p.Arg399Ter | |
| NM_001194958.2:c.1195C>T MANE Select | NP_001181887.2:p.Arg399Ter | |
| XM_005276919.2:c.1501C>T | XP_005276976.1:p.Arg501Ter | |
| XM_005276919.3:c.1501C>T | XP_005276976.1:p.Arg501Ter |