Linked Data
ClinVar Variation Id:
189553
ClinVar RCV Id:
RCV000169993
dbSNP Id:
rs786204966
PubMed:
PMID:22430159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604014G>T , CM000685.2:g.18604014G>T | GRCh38 |
| NC_000023.10:g.18622134G>T , CM000685.1:g.18622134G>T | GRCh37 |
| NC_000023.9:g.18532055G>T | NCBI36 |
| NG_008475.1:g.183410G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1090G>T MANE Select | ENSP00000485244.1:p.Glu364Ter | |
| ENST00000635828.1:c.1090G>T | ENSP00000490170.1:p.Glu364Ter | |
| ENST00000637881.1:c.1090G>T | ENSP00000489879.1:p.Glu364Ter | |
| ENST00000674046.1:c.1090G>T | ENSP00000501174.1:p.Glu364Ter | |
| ENST00000379989.6:c.1090G>T | ENSP00000369325.3:p.Glu364Ter | |
| ENST00000379996.7:c.1090G>T | ENSP00000369332.3:p.Glu364Ter | |
| ENST00000463994.4:c.1090G>T | ENSP00000485184.1:p.Glu364Ter | |
| ENST00000623535.1:c.1090G>T | ENSP00000485244.1:p.Glu364Ter | |
| NM_001037343.1:c.1090G>T | NP_001032420.1:p.Glu364Ter | |
| NM_003159.2:c.1090G>T | NP_003150.1:p.Glu364Ter | |
| XM_011545569.1:c.1039G>T | XP_011543871.1:p.Glu347Ter | |
| XM_011545570.1:c.958G>T | XP_011543872.1:p.Glu320Ter | |
| XR_950484.1:n.1342G>T | ||
| NM_001323289.1:c.1090G>T | NP_001310218.1:p.Glu364Ter | |
| NM_001323289.2:c.1090G>T MANE Select | NP_001310218.1:p.Glu364Ter | |
| NM_001037343.2:c.1090G>T | NP_001032420.1:p.Glu364Ter | |
| NM_003159.3:c.1090G>T | NP_003150.1:p.Glu364Ter |