Linked Data
ClinVar Variation Id:
7980
ClinVar RCV Id:
RCV000008444
dbSNP Id:
rs104894058
gnomAD v4:
7-19116781-C-A
COSMIC:
COSM127004
PubMed:
PMID:9934984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116781C>A , CM000669.2:g.19116781C>A | GRCh38 |
| NC_000007.13:g.19156404C>A , CM000669.1:g.19156404C>A | GRCh37 |
| NC_000007.12:g.19122929C>A | NCBI36 |
| NG_008114.1:g.5892G>T | |
| NG_008114.2:g.5892G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.541G>T MANE Select | ENSP00000242261.5:p.Glu181Ter | |
| ENST00000242261.5:c.541G>T | ENSP00000242261.5:p.Glu181Ter | |
| ENST00000354571.5:c.338G>T | ||
| ENST00000443687.5:c.144G>T | ||
| NM_000474.3:c.541G>T | NP_000465.1:p.Glu181Ter | |
| XM_011515496.1:c.541G>T | XP_011513798.1:p.Glu181Ter | |
| NR_149001.1:n.892G>T | ||
| NM_000474.4:c.541G>T MANE Select | NP_000465.1:p.Glu181Ter | |
| NR_149001.2:n.856G>T |