Linked Data
ClinVar Variation Id:
2143222
dbSNP Id:
rs199472752
gnomAD v2:
11-2604697-G-A
gnomAD v4:
11-2583467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583467G>A , CM000673.2:g.2583467G>A | GRCh38 |
| NC_000011.9:g.2604697G>A , CM000673.1:g.2604697G>A | GRCh37 |
| NC_000011.8:g.2561273G>A | NCBI36 |
| NG_008935.1:g.143477G>A , LRG_287:g.143477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.693G>A | ENSP00000434560.2:p.Lys231= | |
| ENST00000646564.2:c.510G>A | ENSP00000495806.2:p.Lys170= | |
| ENST00000155840.12:c.954G>A MANE Select | ENSP00000155840.2:p.Lys318= | |
| ENST00000335475.6:c.573G>A | ENSP00000334497.5:p.Lys191= | |
| ENST00000646564.1:c.156G>A | ENSP00000495806.1:p.Lys52= | |
| ENST00000155840.9:c.954G>A | ENSP00000155840.2:p.Lys318= | |
| ENST00000335475.5:c.573G>A | ENSP00000334497.5:p.Lys191= | |
| NM_000218.2:c.954G>A , LRG_287t1:c.954G>A | NP_000209.2:p.Lys318= | |
| NM_181798.1:c.573G>A , LRG_287t2:c.573G>A | NP_861463.1:p.Lys191= | |
| NM_000218.3:c.954G>A MANE Select | NP_000209.2:p.Lys318= |