Linked Data
ClinVar Variation Id:
253323
ClinVar RCV Id:
RCV000240222
dbSNP Id:
rs886037878
PubMed:
PMID:27476653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80864811A>C , CM000667.2:g.80864811A>C | GRCh38 |
| NC_000005.9:g.80160630A>C , CM000667.1:g.80160630A>C | GRCh37 |
| NC_000005.8:g.80196386A>C | NCBI36 |
| NG_016607.1:g.215337A>C | |
| NG_016607.2:g.215337A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.3001-2A>C MANE Select | ENSP00000265081.6:n.3001-2A>C | |
| ENST00000658259.1:c.2833-2A>C | ENSP00000499617.1:n.2833-2A>C | |
| ENST00000659302.1:c.409-2A>C | ||
| ENST00000667069.1:c.2806-2A>C | ENSP00000499502.1:n.2806-2A>C | |
| ENST00000670357.1:c.*325-2A>C | ENSP00000499791.1:n.*325-2A>C | |
| ENST00000265081.6:c.3001-2A>C | ENSP00000265081.6:n.3001-2A>C | |
| NM_002439.4:c.3001-2A>C | NP_002430.3:n.3001-2A>C | |
| NM_002439.5:c.3001-2A>C MANE Select | NP_002430.3:n.3001-2A>C |