Linked Data
ClinVar Variation Id:
217874
ClinVar RCV Id:
RCV000201936
dbSNP Id:
rs863225289
PubMed:
PMID:16611748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628590C>T , CM000685.2:g.18628590C>T | GRCh38 |
| NC_000023.10:g.18646710C>T , CM000685.1:g.18646710C>T | GRCh37 |
| NC_000023.9:g.18556631C>T | NCBI36 |
| NG_008475.1:g.207986C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.2716C>T MANE Select | ENSP00000485244.1:p.Gln906Ter | |
| ENST00000674046.1:c.2839C>T | ENSP00000501174.1:p.Gln947Ter | |
| ENST00000379989.6:c.2713+3C>T | ENSP00000369325.3:n.2713+3C>T | |
| ENST00000379996.7:c.2713+3C>T | ENSP00000369332.3:n.2713+3C>T | |
| ENST00000623535.1:c.2716C>T | ENSP00000485244.1:p.Gln906Ter | |
| NM_001037343.1:c.2713+3C>T | NP_001032420.1:n.2713+3C>T | |
| NM_003159.2:c.2713+3C>T | NP_003150.1:n.2713+3C>T | |
| XM_011545569.1:c.2785+3C>T | XP_011543871.1:n.2785+3C>T | |
| XM_011545570.1:c.2704+3C>T | XP_011543872.1:n.2704+3C>T | |
| XR_950484.1:n.3088+3C>T | ||
| NM_001323289.1:c.2716C>T | NP_001310218.1:p.Gln906Ter | |
| NM_001323289.2:c.2716C>T MANE Select | NP_001310218.1:p.Gln906Ter | |
| NM_001037343.2:c.2713+3C>T | NP_001032420.1:n.2713+3C>T | |
| NM_003159.3:c.2713+3C>T | NP_003150.1:n.2713+3C>T |