Linked Data
ClinVar Variation Id:
161111
ClinVar RCV Id:
RCV000148292
dbSNP Id:
rs606231419
PubMed:
PMID:25213377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871492G>C , CM000664.2:g.203871492G>C | GRCh38 |
| NC_000002.11:g.204736215G>C , CM000664.1:g.204736215G>C | GRCh37 |
| NC_000002.10:g.204444460G>C | NCBI36 |
| NG_011502.1:g.8707G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.507+65G>C | ENSP00000512353.1:n.507+65G>C | |
| ENST00000696479.1:c.639+5G>C | ENSP00000512655.1:n.639+5G>C | |
| ENST00000427473.3:n.491+559G>C | ||
| ENST00000648405.2:c.567+5G>C MANE Select | ENSP00000497102.1:n.567+5G>C | |
| ENST00000650075.1:n.591+5G>C | ||
| ENST00000295854.10:c.457+559G>C | ENSP00000295854.6:n.457+559G>C | |
| ENST00000302823.7:c.567+5G>C | ENSP00000303939.3:n.567+5G>C | |
| ENST00000427473.2:c.346+559G>C | ENSP00000409707.2:n.346+559G>C | |
| ENST00000472206.1:c.172+844G>C | ENSP00000417779.1:n.172+844G>C | |
| ENST00000487393.1:n.110-1216G>C | ||
| NM_001037631.2:c.457+559G>C | NP_001032720.1:n.457+559G>C | |
| NM_005214.4:c.567+5G>C | NP_005205.2:n.567+5G>C | |
| XR_241294.1:n.707+5G>C | ||
| NM_001037631.3:c.457+559G>C | NP_001032720.1:n.457+559G>C | |
| NM_005214.5:c.567+5G>C MANE Select | NP_005205.2:n.567+5G>C |