Linked Data
ClinVar Variation Id:
37070
ClinVar RCV Id:
RCV000030720
dbSNP Id:
rs387907274
PubMed:
PMID:22863194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189158C>T , CM000678.2:g.31189158C>T | GRCh38 |
| NC_000016.9:g.31200479C>T , CM000678.1:g.31200479C>T | GRCh37 |
| NC_000016.8:g.31107980C>T | NCBI36 |
| NG_012889.2:g.14027C>T , LRG_655:g.14027C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254108.12:c.868C>T MANE Select | ENSP00000254108.8:p.Gln290Ter | |
| ENST00000254108.11:c.868C>T | ENSP00000254108.7:p.Gln290Ter | |
| ENST00000380244.7:c.865C>T | ENSP00000369594.3:p.Gln289Ter | |
| ENST00000474990.5:n.162C>T | ||
| ENST00000487509.6:n.4043C>T | ||
| ENST00000564766.1:n.692C>T | ||
| ENST00000566605.5:c.*41C>T | ENSP00000455073.1:n.*41C>T | |
| ENST00000568685.1:c.871C>T | ENSP00000455282.1:p.Gln291Ter | |
| ENST00000568901.2:n.242C>T | ||
| NM_001170634.1:c.865C>T | NP_001164105.1:p.Gln289Ter | |
| NM_001170937.1:c.856C>T | NP_001164408.1:p.Gln286Ter | |
| NM_004960.3:c.868C>T , LRG_655t1:c.868C>T | NP_004951.1:p.Gln290Ter | |
| NR_028388.2:n.938C>T | ||
| XM_005255233.3:c.253C>T | XP_005255290.1:p.Gln85Ter | |
| XM_011545781.1:c.862C>T | XP_011544083.1:p.Gln288Ter | |
| XM_011545782.1:c.253C>T | XP_011544084.1:p.Gln85Ter | |
| XM_005255233.5:c.253C>T | XP_005255290.1:p.Gln85Ter | |
| XM_011545782.2:c.253C>T | XP_011544084.1:p.Gln85Ter | |
| XM_024450221.1:c.859C>T | XP_024305989.1:p.Gln287Ter | |
| NM_004960.4:c.868C>T MANE Select | NP_004951.1:p.Gln290Ter |