Linked Data
ClinVar Variation Id:
9961
ClinVar RCV Id:
RCV001799598
dbSNP Id:
rs199422233
PubMed:
PMID:8541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331768G>A , CM000685.2:g.15331768G>A | GRCh38 |
| NC_000023.10:g.15349890G>A , CM000685.1:g.15349890G>A | GRCh37 |
| NC_000023.9:g.15259811G>A | NCBI36 |
| NG_009786.1:g.8771C>T , LRG_160:g.8771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.163C>T MANE Select | ENSP00000369820.3:p.Gln55Ter | |
| ENST00000637296.1:c.-315+106C>T | ENSP00000490545.1:n.-315+106C>T | |
| ENST00000637626.1:c.163C>T | ENSP00000489928.1:p.Gln55Ter | |
| ENST00000638131.1:c.111+52C>T | ENSP00000490483.1:n.111+52C>T | |
| ENST00000333590.5:c.163C>T | ENSP00000369820.3:p.Gln55Ter | |
| ENST00000474662.2:n.142+106C>T | ||
| ENST00000482148.6:c.163C>T | ENSP00000489528.1:p.Gln55Ter | |
| ENST00000542278.6:c.163C>T | ENSP00000442653.2:p.Gln55Ter | |
| ENST00000634582.1:c.13+3733C>T | ENSP00000489540.1:n.13+3733C>T | |
| ENST00000634640.1:c.-231+106C>T | ENSP00000489083.1:n.-231+106C>T | |
| ENST00000635045.1:n.248C>T | ||
| ENST00000635543.1:c.163C>T | ENSP00000489205.1:p.Gln55Ter | |
| ENST00000635598.1:c.163C>T | ENSP00000489207.1:p.Gln55Ter | |
| NM_002641.3:c.163C>T , LRG_160t1:c.163C>T | NP_002632.1:p.Gln55Ter | |
| NM_020473.3:c.13+3733C>T | NP_065206.3:n.13+3733C>T | |
| NR_033835.1:n.279C>T | ||
| NR_033836.1:n.173+106C>T | ||
| NM_002641.4:c.163C>T MANE Select | NP_002632.1:p.Gln55Ter |