Linked Data
ClinVar Variation Id:
523416
dbSNP Id:
rs1445287184
gnomAD v2:
12-81064144-C-T
gnomAD v3:
12-80670365-C-T
gnomAD v4:
12-80670365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80670365C>T , CM000674.2:g.80670365C>T | GRCh38 |
| NC_000012.11:g.81064144C>T , CM000674.1:g.81064144C>T | GRCh37 |
| NC_000012.10:g.79588275C>T | NCBI36 |
| NG_034052.1:g.231020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.6475C>T MANE Select | ENSP00000495607.1:p.Arg2159Ter | |
| ENST00000614701.4:c.6475C>T | ENSP00000482885.1:p.Arg2159Ter | |
| ENST00000616559.4:c.6574C>T | ENSP00000483259.1:p.Arg2192Ter | |
| NM_001145026.1:c.6475C>T | NP_001138498.1:p.Arg2159Ter | |
| XM_011538290.1:c.6541C>T | XP_011536592.1:p.Arg2181Ter | |
| XR_945142.1:n.111-23617G>A | ||
| XM_017019273.1:c.7186C>T | XP_016874762.1:p.Arg2396Ter | |
| XM_017019274.1:c.7141C>T | XP_016874763.1:p.Arg2381Ter | |
| XR_001749222.1:n.120+36744G>A | ||
| NM_001145026.2:c.6475C>T MANE Select | NP_001138498.1:p.Arg2159Ter |