Linked Data
ClinVar Variation Id:
156229
ClinVar RCV Id:
RCV000144247
dbSNP Id:
rs587777743
gnomAD v4:
4-99557386-G-A
PubMed:
PMID:24204302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99557386G>A , CM000666.2:g.99557386G>A | GRCh38 |
| NC_000004.11:g.100478543G>A , CM000666.1:g.100478543G>A | GRCh37 |
| NC_000004.10:g.100697566G>A | NCBI36 |
| NG_041774.1:g.11672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394876.7:c.379C>T MANE Select | ENSP00000378342.2:p.Arg127Ter | |
| ENST00000273962.7:c.379C>T | ENSP00000273962.3:p.Arg127Ter | |
| ENST00000394876.6:c.379C>T | ENSP00000378342.2:p.Arg127Ter | |
| ENST00000394877.7:c.379C>T | ENSP00000378343.3:p.Arg127Ter | |
| ENST00000455368.6:c.379C>T | ENSP00000397551.2:p.Arg127Ter | |
| ENST00000514547.1:c.379C>T | ENSP00000423628.1:p.Arg127Ter | |
| ENST00000515831.1:n.145C>T | ||
| NM_001134665.2:c.379C>T | NP_001128137.1:p.Arg127Ter | |
| NM_001134666.2:c.379C>T | NP_001128138.1:p.Arg127Ter | |
| NM_152292.4:c.379C>T | NP_689505.1:p.Arg127Ter | |
| XM_005263352.3:c.379C>T | XP_005263409.1:p.Arg127Ter | |
| XM_006714417.2:c.379C>T | XP_006714480.1:p.Arg127Ter | |
| XM_006714418.2:c.379C>T | XP_006714481.1:p.Arg127Ter | |
| NM_001134665.3:c.379C>T MANE Select | NP_001128137.1:p.Arg127Ter | |
| NM_001134666.3:c.379C>T | NP_001128138.1:p.Arg127Ter | |
| NM_001375880.1:c.379C>T | NP_001362809.1:p.Arg127Ter | |
| NM_001375881.1:c.379C>T | NP_001362810.1:p.Arg127Ter | |
| NM_001375882.1:c.379C>T | NP_001362811.1:p.Arg127Ter | |
| NM_152292.5:c.379C>T | NP_689505.1:p.Arg127Ter |