Linked Data
ClinVar Variation Id:
39272
dbSNP Id:
rs199476194
gnomAD v2:
4-187122467-C-T
gnomAD v4:
4-186201313-C-T
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186201313C>T , CM000666.2:g.186201313C>T | GRCh38 |
| NC_000004.11:g.187122467C>T , CM000666.1:g.187122467C>T | GRCh37 |
| NC_000004.10:g.187359461C>T | NCBI36 |
| NG_007965.1:g.14794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.958C>T MANE Select | ENSP00000368079.4:p.Arg320Ter | |
| ENST00000378802.4:c.958C>T | ENSP00000368079.4:p.Arg320Ter | |
| ENST00000507209.5:n.1799C>T | ||
| NM_207352.3:c.958C>T | NP_997235.3:p.Arg320Ter | |
| XM_005262935.2:c.958C>T | XP_005262992.1:p.Arg320Ter | |
| XM_006714184.2:c.562C>T | XP_006714247.1:p.Arg188Ter | |
| XM_005262935.4:c.958C>T | XP_005262992.1:p.Arg320Ter | |
| XM_017008037.1:c.562C>T | XP_016863526.1:p.Arg188Ter | |
| NM_207352.4:c.958C>T MANE Select | NP_997235.3:p.Arg320Ter |