Linked Data
ClinVar Variation Id:
156464
dbSNP Id:
rs587777841
gnomAD v4:
13-27623011-C-G
PubMed:
PMID:24603435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27623011C>G , CM000675.2:g.27623011C>G | GRCh38 |
| NC_000013.10:g.28197148C>G , CM000675.1:g.28197148C>G | GRCh37 |
| NC_000013.9:g.27095148C>G | NCBI36 |
| NG_028908.1:g.7269C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636952.2:c.26+1002C>G | ENSP00000508561.1:n.26+1002C>G | |
| ENST00000685267.1:c.26+1002C>G | ENSP00000508576.1:n.26+1002C>G | |
| ENST00000692944.1:c.26+1002C>G | ENSP00000510286.1:n.26+1002C>G | |
| ENST00000693488.1:c.-59+1574C>G | ENSP00000508846.1:n.-59+1574C>G | |
| ENST00000302979.5:c.163C>G MANE Select | ENSP00000302478.4:p.Leu55Val | |
| ENST00000636817.1:c.26+1002C>G | ENSP00000490310.1:n.26+1002C>G | |
| ENST00000637071.1:c.-84+1002C>G | ENSP00000489713.1:n.-84+1002C>G | |
| ENST00000637180.1:c.-59+1574C>G | ENSP00000490619.1:n.-59+1574C>G | |
| ENST00000637389.1:n.71+1748C>G | ||
| ENST00000302979.4:c.163C>G | ENSP00000302478.3:p.Leu55Val | |
| ENST00000399696.3:c.112C>G | ENSP00000382603.2:p.Leu38Val | |
| ENST00000399697.7:c.26+1002C>G | ENSP00000382604.3:n.26+1002C>G | |
| ENST00000465887.2:c.26+1002C>G | ENSP00000487057.1:n.26+1002C>G | |
| ENST00000489647.4:c.26+1002C>G | ENSP00000483656.1:n.26+1002C>G | |
| ENST00000621089.2:c.-59+1871C>G | ENSP00000478213.1:n.-59+1871C>G | |
| ENST00000627604.1:c.-59+1574C>G | ENSP00000486327.1:n.-59+1574C>G | |
| ENST00000630983.1:c.26+1002C>G | ENSP00000486928.1:n.26+1002C>G | |
| NM_001206559.1:c.-59+1871C>G | NP_001193488.1:n.-59+1871C>G | |
| NM_015972.3:c.163C>G | NP_057056.1:p.Leu55Val | |
| NM_152705.2:c.26+1002C>G | NP_689918.1:n.26+1002C>G | |
| XM_005266412.1:c.163C>G | XP_005266469.1:p.Leu55Val | |
| XM_005266414.1:c.26+1002C>G | XP_005266471.1:n.26+1002C>G | |
| XM_005266412.2:c.163C>G | XP_005266469.1:p.Leu55Val | |
| NM_001206559.2:c.-59+1871C>G | NP_001193488.1:n.-59+1871C>G | |
| NM_001374407.1:c.163C>G | NP_001361336.1:p.Leu55Val | |
| NM_015972.4:c.163C>G MANE Select | NP_057056.1:p.Leu55Val | |
| NM_152705.3:c.26+1002C>G | NP_689918.1:n.26+1002C>G |