Linked Data
ClinVar Variation Id:
8083
ClinVar RCV Id:
RCV000008551
dbSNP Id:
rs104893857
PubMed:
PMID:8944018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110621255A>T , CM000666.2:g.110621255A>T | GRCh38 |
| NC_000004.11:g.111542411A>T , CM000666.1:g.111542411A>T | GRCh37 |
| NC_000004.10:g.111761860A>T | NCBI36 |
| NG_007120.1:g.21098T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.185-2567T>A | ENSP00000484763.2:n.185-2567T>A | |
| ENST00000614423.5:c.218T>A | ENSP00000481951.2:p.Leu73Gln | |
| ENST00000616641.5:n.286T>A | ||
| ENST00000644488.2:n.290T>A | ||
| ENST00000394595.8:c.299T>A | ENSP00000378095.4:p.Leu100Gln | |
| ENST00000644488.1:n.362T>A | ||
| ENST00000644743.1:c.320T>A MANE Select | ENSP00000495061.1:p.Leu107Gln | |
| ENST00000645131.1:n.251T>A | ||
| ENST00000306732.7:c.320T>A | ENSP00000304169.3:p.Leu107Gln | |
| ENST00000354925.6:c.299T>A | ENSP00000347004.2:p.Leu100Gln | |
| ENST00000355080.9:c.161T>A | ENSP00000347192.5:p.Leu54Gln | |
| ENST00000394595.7:c.185-2567T>A | ENSP00000378095.3:n.185-2567T>A | |
| ENST00000394598.6:c.299T>A | ENSP00000378097.2:p.Leu100Gln | |
| ENST00000511837.5:c.299T>A | ENSP00000421454.1:p.Leu100Gln | |
| ENST00000511990.1:c.161T>A | ENSP00000424142.1:p.Leu54Gln | |
| ENST00000557119.2:c.320T>A | ENSP00000475617.1:p.Leu107Gln | |
| ENST00000613094.4:c.299T>A | ENSP00000484763.1:p.Leu100Gln | |
| ENST00000614423.4:c.299T>A | ENSP00000481951.1:p.Leu100Gln | |
| ENST00000616641.4:c.161T>A | ENSP00000484909.1:p.Leu54Gln | |
| NM_000325.5:c.320T>A | NP_000316.2:p.Leu107Gln | |
| NM_001204397.1:c.299T>A | NP_001191326.1:p.Leu100Gln | |
| NM_001204398.1:c.299T>A | NP_001191327.1:p.Leu100Gln | |
| NM_001204399.1:c.161T>A | NP_001191328.1:p.Leu54Gln | |
| NM_153426.2:c.299T>A | NP_700475.1:p.Leu100Gln | |
| NM_153427.2:c.161T>A | NP_700476.1:p.Leu54Gln | |
| XM_006714235.2:c.299T>A | XP_006714298.1:p.Leu100Gln | |
| XM_011532027.1:c.161T>A | XP_011530329.1:p.Leu54Gln | |
| XM_024454090.1:c.-35T>A | XP_024309858.1:n.-35T>A | |
| NM_000325.6:c.320T>A MANE Select | NP_000316.2:p.Leu107Gln | |
| NM_001204397.2:c.299T>A | NP_001191326.1:p.Leu100Gln | |
| NM_153426.3:c.299T>A | NP_700475.1:p.Leu100Gln | |
| NM_153427.3:c.161T>A | NP_700476.1:p.Leu54Gln |