Linked Data
ClinVar Variation Id:
446189
ClinVar RCV Id:
RCV001841405
dbSNP Id:
rs267607197
gnomAD v4:
11-2587690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587690G>A , CM000673.2:g.2587690G>A | GRCh38 |
| NC_000011.9:g.2608920G>A , CM000673.1:g.2608920G>A | GRCh37 |
| NC_000011.8:g.2565496G>A | NCBI36 |
| NG_008935.1:g.147700G>A , LRG_287:g.147700G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.892G>A | ENSP00000434560.2:p.Val298Met | |
| ENST00000646564.2:c.709G>A | ENSP00000495806.2:p.Val237Met | |
| ENST00000155840.12:c.1249G>A MANE Select | ENSP00000155840.2:p.Val417Met | |
| ENST00000335475.6:c.868G>A | ENSP00000334497.5:p.Val290Met | |
| ENST00000646564.1:c.355G>A | ENSP00000495806.1:p.Val119Met | |
| ENST00000155840.9:c.1249G>A | ENSP00000155840.2:p.Val417Met | |
| ENST00000335475.5:c.868G>A | ENSP00000334497.5:p.Val290Met | |
| NM_000218.2:c.1249G>A , LRG_287t1:c.1249G>A | NP_000209.2:p.Val417Met | |
| NM_181798.1:c.868G>A , LRG_287t2:c.868G>A | NP_861463.1:p.Val290Met | |
| NM_000218.3:c.1249G>A MANE Select | NP_000209.2:p.Val417Met |