Linked Data
ClinVar Variation Id:
225896
ClinVar RCV Id:
RCV000211110
dbSNP Id:
rs875989805
PubMed:
PMID:27159028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17687870C>T , CM000685.2:g.17687870C>T | GRCh38 |
| NC_000023.10:g.17705990C>T , CM000685.1:g.17705990C>T | GRCh37 |
| NC_000023.9:g.17615911C>T | NCBI36 |
| NG_011553.2:g.317451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1089C>T | ||
| ENST00000648929.1:c.355C>T | ENSP00000497676.1:p.Gln119Ter | |
| ENST00000676302.1:c.694C>T MANE Select | ENSP00000502262.1:p.Gln232Ter | |
| ENST00000380060.7:c.694C>T | ENSP00000369400.3:p.Gln232Ter | |
| ENST00000398097.7:c.163C>T | ENSP00000381170.3:p.Gln55Ter | |
| ENST00000615422.1:c.154C>T | ENSP00000480113.1:p.Gln52Ter | |
| ENST00000617601.4:c.145C>T | ENSP00000478433.1:p.Gln49Ter | |
| NM_001136024.3:c.163C>T | NP_001129496.1:p.Gln55Ter | |
| NM_001291867.1:c.694C>T | NP_001278796.1:p.Gln232Ter | |
| NM_001291868.1:c.163C>T | NP_001278797.1:p.Gln55Ter | |
| NM_198270.3:c.694C>T | NP_938011.1:p.Gln232Ter | |
| NM_001136024.4:c.163C>T | NP_001129496.1:p.Gln55Ter | |
| NM_001291867.2:c.694C>T MANE Select | NP_001278796.1:p.Gln232Ter | |
| NM_001291868.2:c.163C>T | NP_001278797.1:p.Gln55Ter | |
| NM_198270.4:c.694C>T | NP_938011.1:p.Gln232Ter |