Linked Data
ClinVar Variation Id:
265623
ClinVar RCV Id:
RCV000255292
dbSNP Id:
rs763670293
ExAC:
5:90024537 C / T
gnomAD v2:
5-90024537-C-T
gnomAD v4:
5-90728720-C-T
COSMIC:
COSM5650389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90728720C>T , CM000667.2:g.90728720C>T | GRCh38 |
| NC_000005.9:g.90024537C>T , CM000667.1:g.90024537C>T | GRCh37 |
| NC_000005.8:g.90060293C>T | NCBI36 |
| NG_007083.1:g.174921C>T | |
| NG_007083.2:g.204377C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10213C>T MANE Select | ENSP00000384582.2:p.Arg3405Ter | |
| ENST00000639431.1:c.265+52511C>T | ENSP00000491057.1:n.265+52511C>T | |
| ENST00000640374.1:n.3357C>T | ||
| ENST00000640464.1:n.632C>T | ||
| ENST00000405460.6:c.10213C>T | ENSP00000384582.2:p.Arg3405Ter | |
| ENST00000509621.1:c.2910C>T | ||
| NM_032119.3:c.10213C>T | NP_115495.3:p.Arg3405Ter | |
| NR_003149.1:n.10226C>T | ||
| XM_011543675.1:c.10210C>T | XP_011541977.1:p.Arg3404Ter | |
| XM_011543676.1:c.10132C>T | XP_011541978.1:p.Arg3378Ter | |
| XM_011543677.1:c.7516C>T | XP_011541979.1:p.Arg2506Ter | |
| XM_011543678.1:c.10213C>T | XP_011541980.1:p.Arg3405Ter | |
| XM_011543679.1:c.10213C>T | XP_011541981.1:p.Arg3405Ter | |
| XR_948560.1:n.271+12187G>A | ||
| NM_032119.4:c.10213C>T MANE Select | NP_115495.3:p.Arg3405Ter | |
| XM_017009963.2:c.10234C>T | XP_016865452.1:p.Arg3412Ter | |
| XM_017009964.2:c.10231C>T | XP_016865453.1:p.Arg3411Ter | |
| XM_017009965.1:c.10231C>T | XP_016865454.1:p.Arg3411Ter | |
| XM_017009966.2:c.10153C>T | XP_016865455.1:p.Arg3385Ter | |
| XM_017009967.1:c.10138C>T | XP_016865456.1:p.Arg3380Ter | |
| XM_017009968.2:c.10234C>T | XP_016865457.1:p.Arg3412Ter | |
| XM_017009969.2:c.10234C>T | XP_016865458.1:p.Arg3412Ter | |
| XM_017009970.2:c.10234C>T | XP_016865459.1:p.Arg3412Ter | |
| XM_017009971.2:c.10234C>T | XP_016865460.1:p.Arg3412Ter | |
| XM_017009972.1:c.3352C>T | XP_016865461.1:p.Arg1118Ter | |
| XM_017009973.1:c.3331C>T | XP_016865462.1:p.Arg1111Ter | |
| XM_017009974.2:c.10234C>T | XP_016865463.1:p.Arg3412Ter | |
| XR_001742802.1:n.2522+12187G>A | ||
| NR_003149.2:n.10229C>T |