Linked Data
ClinVar Variation Id:
893213
dbSNP Id:
rs573401319
ExAC:
2:136558282 G / A
gnomAD v2:
2-136558282-G-A
gnomAD v3:
2-135800712-G-A
gnomAD v4:
2-135800712-G-A
COSMIC:
COSM4393734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135800712G>A , CM000664.2:g.135800712G>A | GRCh38 |
| NC_000002.11:g.136558282G>A , CM000664.1:g.136558282G>A | GRCh37 |
| NC_000002.10:g.136274752G>A | NCBI36 |
| NG_008104.2:g.59458C>T , LRG_338:g.59458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.4761C>T MANE Select | ENSP00000264162.2:p.Arg1587= | |
| ENST00000264162.6:c.4761C>T | ENSP00000264162.2:p.Arg1587= | |
| ENST00000452974.1:c.2960-2574C>T | ENSP00000391231.1:n.2960-2574C>T | |
| NM_002299.2:c.4761C>T , LRG_338t1:c.4761C>T | NP_002290.2:p.Arg1587= | |
| NM_002299.3:c.4761C>T | NP_002290.2:p.Arg1587= | |
| XM_017004088.2:c.4761C>T | XP_016859577.1:p.Arg1587= | |
| NM_002299.4:c.4761C>T MANE Select | NP_002290.2:p.Arg1587= |