Linked Data
ClinVar Variation Id:
504602
dbSNP Id:
rs148566141
ExAC:
11:2592625 G / A
gnomAD v2:
11-2592625-G-A
gnomAD v3:
11-2571395-G-A
gnomAD v4:
11-2571395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571395G>A , CM000673.2:g.2571395G>A | GRCh38 |
| NC_000011.9:g.2592625G>A , CM000673.1:g.2592625G>A | GRCh37 |
| NC_000011.8:g.2549201G>A | NCBI36 |
| NG_008935.1:g.131405G>A , LRG_287:g.131405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.414G>A | ENSP00000434560.2:p.Ser138= | |
| ENST00000646564.2:c.478-12040G>A | ENSP00000495806.2:n.478-12040G>A | |
| ENST00000155840.12:c.675G>A MANE Select | ENSP00000155840.2:p.Ser225= | |
| ENST00000335475.6:c.294G>A | ENSP00000334497.5:p.Ser98= | |
| ENST00000646564.1:c.124-12040G>A | ENSP00000495806.1:n.124-12040G>A | |
| ENST00000155840.9:c.675G>A | ENSP00000155840.2:p.Ser225= | |
| ENST00000335475.5:c.294G>A | ENSP00000334497.5:p.Ser98= | |
| ENST00000496887.6:c.414G>A | ENSP00000434560.1:p.Ser138= | |
| NM_000218.2:c.675G>A , LRG_287t1:c.675G>A | NP_000209.2:p.Ser225= | |
| NM_181798.1:c.294G>A , LRG_287t2:c.294G>A | NP_861463.1:p.Ser98= | |
| NM_000218.3:c.675G>A MANE Select | NP_000209.2:p.Ser225= |