Linked Data
ClinVar Variation Id:
53129
ClinVar RCV Id:
RCV000577617
dbSNP Id:
rs397508133
PubMed:
PMID:10973849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583433A>C , CM000673.2:g.2583433A>C | GRCh38 |
| NC_000011.9:g.2604663A>C , CM000673.1:g.2604663A>C | GRCh37 |
| NC_000011.8:g.2561239A>C | NCBI36 |
| NG_008935.1:g.143443A>C , LRG_287:g.143443A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.661-2A>C | ENSP00000434560.2:n.661-2A>C | |
| ENST00000646564.2:c.478-2A>C | ENSP00000495806.2:n.478-2A>C | |
| ENST00000155840.12:c.922-2A>C MANE Select | ENSP00000155840.2:n.922-2A>C | |
| ENST00000335475.6:c.541-2A>C | ENSP00000334497.5:n.541-2A>C | |
| ENST00000646564.1:c.124-2A>C | ENSP00000495806.1:n.124-2A>C | |
| ENST00000155840.9:c.922-2A>C | ENSP00000155840.2:n.922-2A>C | |
| ENST00000335475.5:c.541-2A>C | ENSP00000334497.5:n.541-2A>C | |
| NM_000218.2:c.922-2A>C , LRG_287t1:c.922-2A>C | NP_000209.2:n.922-2A>C | |
| NM_181798.1:c.541-2A>C , LRG_287t2:c.541-2A>C | NP_861463.1:n.541-2A>C | |
| NM_000218.3:c.922-2A>C MANE Select | NP_000209.2:n.922-2A>C |