Linked Data
ClinVar Variation Id:
287318
dbSNP Id:
rs181679318
ExAC:
11:1861671 G / C
gnomAD v2:
11-1861671-G-C
gnomAD v3:
11-1840441-G-C
gnomAD v4:
11-1840441-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840441G>C , CM000673.2:g.1840441G>C | GRCh38 |
| NC_000011.9:g.1861671G>C , CM000673.1:g.1861671G>C | GRCh37 |
| NC_000011.8:g.1818247G>C | NCBI36 |
| NG_011621.1:g.6439G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.54G>C MANE Select | ENSP00000371336.1:p.Leu18= | |
| ENST00000252898.11:c.54G>C | ENSP00000252898.7:p.Leu18= | |
| ENST00000381905.3:c.54G>C | ENSP00000371330.3:p.Leu18= | |
| ENST00000381906.5:c.54G>C | ENSP00000371331.1:p.Leu18= | |
| ENST00000381911.5:c.54G>C | ENSP00000371336.1:p.Leu18= | |
| ENST00000468473.1:n.224G>C | ||
| ENST00000617947.4:c.54G>C | ENSP00000481242.1:p.Leu18= | |
| NM_001145829.1:c.54G>C | NP_001139301.1:p.Leu18= | |
| NM_001145841.1:c.54G>C | NP_001139313.1:p.Leu18= | |
| NM_003282.3:c.54G>C | NP_003273.1:p.Leu18= | |
| NM_003282.4:c.54G>C MANE Select | NP_003273.1:p.Leu18= | |
| NM_001145829.2:c.54G>C | NP_001139301.1:p.Leu18= | |
| NM_001145841.2:c.54G>C | NP_001139313.1:p.Leu18= |