Linked Data
ClinVar Variation Id:
431797
dbSNP Id:
rs1554041295
gnomAD v4:
5-61541917-C-T
PubMed:
PMID:29198722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61541917C>T , CM000667.2:g.61541917C>T | GRCh38 |
| NC_000005.9:g.60837744C>T , CM000667.1:g.60837744C>T | GRCh37 |
| NC_000005.8:g.60873501C>T | NCBI36 |
| NG_053150.1:g.214645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.2737C>T MANE Select | ENSP00000252744.5:p.Arg913Ter | |
| ENST00000252744.5:c.2737C>T | ENSP00000252744.5:p.Arg913Ter | |
| NM_020928.1:c.2737C>T | NP_065979.1:p.Arg913Ter | |
| XM_011543524.1:c.1600C>T | XP_011541826.1:p.Arg534Ter | |
| XM_017009677.1:c.1597C>T | XP_016865166.1:p.Arg533Ter | |
| XM_024446139.1:c.1834C>T | XP_024301907.1:p.Arg612Ter | |
| XM_024446140.1:c.922C>T | XP_024301908.1:p.Arg308Ter | |
| NM_020928.2:c.2737C>T MANE Select | NP_065979.1:p.Arg913Ter |