Linked Data
ClinVar Variation Id:
17257
ClinVar RCV Id:
RCV000018798
dbSNP Id:
rs121912909
PubMed:
PMID:1385413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94415245G>A , CM000669.2:g.94415245G>A | GRCh38 |
| NC_000007.13:g.94044557G>A , CM000669.1:g.94044557G>A | GRCh37 |
| NC_000007.12:g.93882493G>A | NCBI36 |
| NG_007405.1:g.25685G>A , LRG_2:g.25685G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.1739G>A MANE Select | ENSP00000297268.6:p.Gly580Asp | |
| ENST00000297268.10:c.1739G>A | ENSP00000297268.6:p.Gly580Asp | |
| ENST00000473573.5:n.76G>A | ||
| ENST00000488298.5:n.163G>A | ||
| ENST00000620463.1:c.1733G>A | ENSP00000477719.1:p.Gly578Asp | |
| NM_000089.3:c.1739G>A , LRG_2t1:c.1739G>A | NP_000080.2:p.Gly580Asp | |
| NM_000089.4:c.1739G>A MANE Select | NP_000080.2:p.Gly580Asp |