Linked Data
ClinVar Variation Id:
56390
ClinVar RCV Id:
RCV000049803
dbSNP Id:
rs386833835
PubMed:
PMID:19161632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135800639C>A , CM000664.2:g.135800639C>A | GRCh38 |
| NC_000002.11:g.136558209C>A , CM000664.1:g.136558209C>A | GRCh37 |
| NC_000002.10:g.136274679C>A | NCBI36 |
| NG_008104.2:g.59531G>T , LRG_338:g.59531G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.4834G>T MANE Select | ENSP00000264162.2:p.Glu1612Ter | |
| ENST00000264162.6:c.4834G>T | ENSP00000264162.2:p.Glu1612Ter | |
| ENST00000452974.1:c.2960-2501G>T | ENSP00000391231.1:n.2960-2501G>T | |
| NM_002299.2:c.4834G>T , LRG_338t1:c.4834G>T | NP_002290.2:p.Glu1612Ter | |
| NM_002299.3:c.4834G>T | NP_002290.2:p.Glu1612Ter | |
| XM_017004088.2:c.4834G>T | XP_016859577.1:p.Glu1612Ter | |
| NM_002299.4:c.4834G>T MANE Select | NP_002290.2:p.Glu1612Ter |