Linked Data
ClinVar Variation Id:
254146
dbSNP Id:
rs765903345
ExAC:
2:239237435 C / T
gnomAD v2:
2-239237435-C-T
gnomAD v4:
2-238328794-C-T
PubMed:
PMID:26487268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238328794C>T , CM000664.2:g.238328794C>T | GRCh38 |
| NC_000002.11:g.239237435C>T , CM000664.1:g.239237435C>T | GRCh37 |
| NC_000002.10:g.238902174C>T | NCBI36 |
| NG_053055.1:g.13306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.463C>T MANE Select | ENSP00000362424.4:p.Arg155Ter | |
| ENST00000373327.4:c.463C>T | ENSP00000362424.4:p.Arg155Ter | |
| ENST00000391993.7:c.463C>T | ENSP00000375851.3:p.Arg155Ter | |
| ENST00000409739.2:c.*332C>T | ENSP00000386648.2:n.*332C>T | |
| NM_001139490.1:c.463C>T | NP_001132962.1:p.Arg155Ter | |
| NM_015650.3:c.463C>T | NP_056465.2:p.Arg155Ter | |
| XM_006712414.1:c.463C>T | XP_006712477.1:p.Arg155Ter | |
| XM_011510944.1:c.463C>T | XP_011509246.1:p.Arg155Ter | |
| XM_011510945.1:c.463C>T | XP_011509247.1:p.Arg155Ter | |
| XM_011510946.1:c.463C>T | XP_011509248.1:p.Arg155Ter | |
| XM_011510947.1:c.331C>T | XP_011509249.1:p.Arg111Ter | |
| XM_011510948.1:c.463C>T | XP_011509250.1:p.Arg155Ter | |
| XM_011510949.1:c.463C>T | XP_011509251.1:p.Arg155Ter | |
| XR_922902.1:n.574C>T | ||
| XM_006712414.2:c.463C>T | XP_006712477.1:p.Arg155Ter | |
| XM_011510944.2:c.463C>T | XP_011509246.1:p.Arg155Ter | |
| XM_011510945.2:c.463C>T | XP_011509247.1:p.Arg155Ter | |
| XM_011510946.2:c.463C>T | XP_011509248.1:p.Arg155Ter | |
| XM_011510947.2:c.331C>T | XP_011509249.1:p.Arg111Ter | |
| XM_011510948.2:c.463C>T | XP_011509250.1:p.Arg155Ter | |
| XM_017003789.1:c.463C>T | XP_016859278.1:p.Arg155Ter | |
| XR_001738696.1:n.637C>T | ||
| XR_001738697.1:n.637C>T | ||
| XR_922902.2:n.637C>T | ||
| NM_015650.4:c.463C>T MANE Select | NP_056465.2:p.Arg155Ter |