Linked Data
ClinVar Variation Id:
46306
dbSNP Id:
rs373780305
ExAC:
5:89938703 C / T
gnomAD v2:
5-89938703-C-T
gnomAD v3:
5-90642886-C-T
gnomAD v4:
5-90642886-C-T
PubMed:
PMID:22135276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90642886C>T , CM000667.2:g.90642886C>T | GRCh38 |
| NC_000005.9:g.89938703C>T , CM000667.1:g.89938703C>T | GRCh37 |
| NC_000005.8:g.89974459C>T | NCBI36 |
| NG_007083.1:g.89087C>T | |
| NG_007083.2:g.118543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.2398C>T MANE Select | ENSP00000384582.2:p.Arg800Ter | |
| ENST00000504142.2:n.1164C>T | ||
| ENST00000640403.1:c.-300C>T | ENSP00000492531.1:n.-300C>T | |
| ENST00000405460.6:c.2398C>T | ENSP00000384582.2:p.Arg800Ter | |
| ENST00000504142.1:c.1163C>T | ||
| ENST00000512205.1:n.308C>T | ||
| NM_032119.3:c.2398C>T | NP_115495.3:p.Arg800Ter | |
| NR_003149.1:n.2494C>T | ||
| XM_011543675.1:c.2398C>T | XP_011541977.1:p.Arg800Ter | |
| XM_011543676.1:c.2398C>T | XP_011541978.1:p.Arg800Ter | |
| XM_011543677.1:c.-300C>T | XP_011541979.1:n.-300C>T | |
| XM_011543678.1:c.2398C>T | XP_011541980.1:p.Arg800Ter | |
| XM_011543679.1:c.2398C>T | XP_011541981.1:p.Arg800Ter | |
| NM_032119.4:c.2398C>T MANE Select | NP_115495.3:p.Arg800Ter | |
| XM_017009963.2:c.2398C>T | XP_016865452.1:p.Arg800Ter | |
| XM_017009964.2:c.2398C>T | XP_016865453.1:p.Arg800Ter | |
| XM_017009965.1:c.2395C>T | XP_016865454.1:p.Arg799Ter | |
| XM_017009966.2:c.2398C>T | XP_016865455.1:p.Arg800Ter | |
| XM_017009967.1:c.2302C>T | XP_016865456.1:p.Arg768Ter | |
| XM_017009968.2:c.2398C>T | XP_016865457.1:p.Arg800Ter | |
| XM_017009969.2:c.2398C>T | XP_016865458.1:p.Arg800Ter | |
| XM_017009970.2:c.2398C>T | XP_016865459.1:p.Arg800Ter | |
| XM_017009971.2:c.2398C>T | XP_016865460.1:p.Arg800Ter | |
| XM_017009974.2:c.2398C>T | XP_016865463.1:p.Arg800Ter | |
| NR_003149.2:n.2497C>T |