Linked Data
ClinVar Variation Id:
128967
dbSNP Id:
rs149315015
ExAC:
6:52285233 T / C
gnomAD v2:
6-52285233-T-C
gnomAD v3:
6-52420435-T-C
gnomAD v4:
6-52420435-T-C
PubMed:
PMID:27467453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52420435T>C , CM000668.2:g.52420435T>C | GRCh38 |
| NC_000006.11:g.52285233T>C , CM000668.1:g.52285233T>C | GRCh37 |
| NC_000006.10:g.52393192T>C | NCBI36 |
| NG_016760.1:g.5240T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.25T>C MANE Select | ENSP00000360107.4:p.Leu9= | |
| ENST00000480623.6:c.25T>C | ENSP00000434498.2:p.Leu9= | |
| ENST00000491749.2:n.88-3511T>C | ||
| ENST00000635760.1:c.-261-3511T>C | ENSP00000489765.1:n.-261-3511T>C | |
| ENST00000635812.1:c.25T>C | ENSP00000490859.1:p.Leu9= | |
| ENST00000635843.1:n.63T>C | ||
| ENST00000635866.1:c.25T>C | ENSP00000489866.1:p.Leu9= | |
| ENST00000635911.1:n.158T>C | ||
| ENST00000635963.1:c.25T>C | ENSP00000489852.1:p.Leu9= | |
| ENST00000635984.1:c.-261-3511T>C | ENSP00000489921.1:n.-261-3511T>C | |
| ENST00000635996.1:c.25T>C | ENSP00000490256.1:p.Leu9= | |
| ENST00000636107.1:c.25T>C | ENSP00000489680.1:p.Leu9= | |
| ENST00000636311.1:n.63T>C | ||
| ENST00000636379.1:c.25T>C | ENSP00000490622.1:p.Leu9= | |
| ENST00000636489.1:c.-161T>C | ENSP00000489998.1:n.-161T>C | |
| ENST00000636702.1:c.-148T>C | ENSP00000489623.1:n.-148T>C | |
| ENST00000637089.1:c.25T>C | ENSP00000489854.1:p.Leu9= | |
| ENST00000637200.1:c.25T>C | ENSP00000490567.1:p.Leu9= | |
| ENST00000637263.1:c.25T>C | ENSP00000489700.1:p.Leu9= | |
| ENST00000637315.1:c.46-3511T>C | ENSP00000489708.1:n.46-3511T>C | |
| ENST00000637340.1:n.693T>C | ||
| ENST00000637353.1:c.25T>C | ENSP00000490441.1:p.Leu9= | |
| ENST00000637602.1:c.25T>C | ENSP00000490074.1:p.Leu9= | |
| ENST00000637849.1:n.128-3511T>C | ||
| ENST00000637892.1:n.229T>C | ||
| ENST00000371068.9:c.25T>C | ENSP00000360107.4:p.Leu9= | |
| ENST00000480623.5:c.25T>C | ENSP00000434498.1:p.Leu9= | |
| ENST00000491749.1:n.74T>C | ||
| NM_018100.3:c.25T>C | NP_060570.2:p.Leu9= | |
| NR_033327.1:n.240T>C | ||
| NM_018100.4:c.25T>C MANE Select | NP_060570.2:p.Leu9= | |
| NR_033327.2:n.94T>C |