Linked Data
ClinVar Variation Id:
161113
ClinVar RCV Id:
RCV000148294
dbSNP Id:
rs606231421
PubMed:
PMID:25329329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203868052G>T , CM000664.2:g.203868052G>T | GRCh38 |
| NC_000002.11:g.204732775G>T , CM000664.1:g.204732775G>T | GRCh37 |
| NC_000002.10:g.204441020G>T | NCBI36 |
| NG_011502.1:g.5267G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.109+1G>T | ENSP00000512353.1:n.109+1G>T | |
| ENST00000696479.1:c.181+1G>T | ENSP00000512655.1:n.181+1G>T | |
| ENST00000648405.2:c.109+1G>T MANE Select | ENSP00000497102.1:n.109+1G>T | |
| ENST00000295854.10:c.109+1G>T | ENSP00000295854.6:n.109+1G>T | |
| ENST00000302823.7:c.109+1G>T | ENSP00000303939.3:n.109+1G>T | |
| ENST00000472206.1:c.109+1G>T | ENSP00000417779.1:n.109+1G>T | |
| ENST00000487393.1:n.109+1G>T | ||
| NM_001037631.2:c.109+1G>T | NP_001032720.1:n.109+1G>T | |
| NM_005214.4:c.109+1G>T | NP_005205.2:n.109+1G>T | |
| XR_241294.1:n.249+1G>T | ||
| NM_001037631.3:c.109+1G>T | NP_001032720.1:n.109+1G>T | |
| NM_005214.5:c.109+1G>T MANE Select | NP_005205.2:n.109+1G>T |