Linked Data
ClinVar Variation Id:
474957
dbSNP Id:
rs74162089
ExAC:
2:163123842 G / A
gnomAD v2:
2-163123842-G-A
gnomAD v3:
2-162267332-G-A
gnomAD v4:
2-162267332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162267332G>A , CM000664.2:g.162267332G>A | GRCh38 |
| NC_000002.11:g.163123842G>A , CM000664.1:g.163123842G>A | GRCh37 |
| NC_000002.10:g.162832088G>A | NCBI36 |
| NG_011495.1:g.56198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*2543C>T | ENSP00000513228.1:n.*2543C>T | |
| ENST00000648433.1:c.2829C>T | ENSP00000496816.1:p.Leu943= | |
| ENST00000649426.1:n.707C>T | ||
| ENST00000649554.1:n.2556C>T | ||
| ENST00000649979.2:c.2946C>T MANE Select | ENSP00000497271.1:p.Leu982= | |
| ENST00000679938.1:c.2634C>T | ENSP00000505518.1:p.Leu878= | |
| ENST00000263642.2:c.2946C>T | ENSP00000263642.2:p.Leu982= | |
| NM_022168.3:c.2946C>T | NP_071451.2:p.Leu982= | |
| XM_011511628.1:c.2229C>T | XP_011509930.1:p.Leu743= | |
| NM_022168.4:c.2946C>T MANE Select | NP_071451.2:p.Leu982= |