Linked Data
ClinVar Variation Id:
141421
ClinVar RCV Id:
RCV000129930
dbSNP Id:
rs200185429
ExAC:
8:118165323 C / T
gnomAD v2:
8-118165323-C-T
gnomAD v3:
8-117153084-C-T
gnomAD v4:
8-117153084-C-T
PubMed:
PMID:24584071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117153084C>T , CM000670.2:g.117153084C>T | GRCh38 |
| NC_000008.10:g.118165323C>T , CM000670.1:g.118165323C>T | GRCh37 |
| NC_000008.9:g.118234504C>T | NCBI36 |
| NG_016991.1:g.207812C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.412C>T MANE Select | ENSP00000415011.2:p.Arg138Ter | |
| ENST00000427715.2:c.265C>T | ENSP00000407505.2:p.Arg89Ter | |
| ENST00000456015.6:c.412C>T | ENSP00000415011.2:p.Arg138Ter | |
| ENST00000519688.5:c.265C>T | ENSP00000431069.1:p.Arg89Ter | |
| ENST00000521243.5:c.265C>T | ENSP00000428545.1:p.Arg89Ter | |
| NM_001172811.1:c.265C>T | NP_001166282.1:p.Arg89Ter | |
| NM_001172813.1:c.265C>T | NP_001166284.1:p.Arg89Ter | |
| NM_001172814.1:c.265C>T | NP_001166285.1:p.Arg89Ter | |
| NM_001172815.1:c.265C>T | NP_001166286.1:p.Arg89Ter | |
| NM_173851.2:c.412C>T | NP_776250.2:p.Arg138Ter | |
| XM_011516881.1:c.412C>T | XP_011515183.1:p.Arg138Ter | |
| XM_011516882.1:c.265C>T | XP_011515184.1:p.Arg89Ter | |
| XR_928569.1:n.1020+19531G>A | ||
| XR_928570.1:n.1020+19531G>A | ||
| NM_001172815.2:c.265C>T | NP_001166286.1:p.Arg89Ter | |
| XM_024447083.1:c.265C>T | XP_024302851.1:p.Arg89Ter | |
| XR_928569.2:n.973+19531G>A | ||
| XR_928570.2:n.973+19531G>A | ||
| NM_001172811.2:c.265C>T | NP_001166282.1:p.Arg89Ter | |
| NM_001172813.2:c.265C>T | NP_001166284.1:p.Arg89Ter | |
| NM_001172814.2:c.265C>T | NP_001166285.1:p.Arg89Ter | |
| NM_173851.3:c.412C>T MANE Select | NP_776250.2:p.Arg138Ter | |
| NM_001172815.3:c.265C>T | NP_001166286.1:p.Arg89Ter |