Linked Data
ClinVar Variation Id:
376178
ClinVar RCV Id:
RCV000421323
dbSNP Id:
rs1057519808
PubMed:
PMID:24265154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117543T>G , CM000681.2:g.4117543T>G | GRCh38 |
| NC_000019.9:g.4117541T>G , CM000681.1:g.4117541T>G | GRCh37 |
| NC_000019.8:g.4068541T>G | NCBI36 |
| NG_007996.1:g.11586A>C , LRG_750:g.11586A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.618A>C | ||
| ENST00000687128.1:n.618A>C | ||
| ENST00000262948.10:c.179A>C MANE Select | ENSP00000262948.4:p.Gln60Pro | |
| ENST00000262948.9:c.179A>C | ENSP00000262948.3:p.Gln60Pro | |
| ENST00000394867.8:c.-113A>C | ENSP00000378336.1:n.-113A>C | |
| ENST00000599345.1:n.376A>C | ||
| NM_030662.3:c.179A>C , LRG_750t1:c.179A>C | NP_109587.1:p.Gln60Pro | |
| XM_006722799.2:c.179A>C | XP_006722862.1:p.Gln60Pro | |
| XM_017026989.1:c.179A>C | XP_016882478.1:p.Gln60Pro | |
| XM_017026990.1:c.179A>C | XP_016882479.1:p.Gln60Pro | |
| XM_017026991.1:c.179A>C | XP_016882480.1:p.Gln60Pro | |
| NM_030662.4:c.179A>C MANE Select | NP_109587.1:p.Gln60Pro |