Linked Data
ClinVar Variation Id:
295324
dbSNP Id:
rs74607124
ExAC:
1:213062595 A / G
gnomAD v2:
1-213062595-A-G
gnomAD v3:
1-212889253-A-G
gnomAD v4:
1-212889253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212889253A>G , CM000663.2:g.212889253A>G | GRCh38 |
| NC_000001.10:g.213062595A>G , CM000663.1:g.213062595A>G | GRCh37 |
| NC_000001.9:g.211129218A>G | NCBI36 |
| NG_028131.1:g.35999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1521A>G MANE Select | ENSP00000355938.4:p.Leu507= | |
| ENST00000366971.8:c.1521A>G | ENSP00000355938.4:p.Leu507= | |
| ENST00000419102.1:c.917A>G | ||
| ENST00000483790.1:n.348A>G | ||
| NM_014053.3:c.1521A>G | NP_054772.1:p.Leu507= | |
| XM_011509446.1:c.1410A>G | XP_011507748.1:p.Leu470= | |
| XR_247024.1:n.1695A>G | ||
| XM_011509446.3:c.1410A>G | XP_011507748.1:p.Leu470= | |
| XR_247024.3:n.1695A>G | ||
| NM_014053.4:c.1521A>G MANE Select | NP_054772.1:p.Leu507= |