Linked Data
ClinVar Variation Id:
198695
ClinVar RCV Id:
RCV000180107
dbSNP Id:
rs797044782
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487106A>C , CM000685.2:g.149487106A>C | GRCh38 |
| NC_000023.10:g.148568637A>C , CM000685.1:g.148568637A>C | GRCh37 |
| NC_000023.9:g.148376542A>C | NCBI36 |
| NG_011900.3:g.23229T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.1007-8T>G MANE Select | ENSP00000339801.6:n.1007-8T>G | |
| ENST00000651111.1:c.374-8T>G | ENSP00000498395.1:n.374-8T>G | |
| ENST00000340855.10:c.1007-8T>G | ENSP00000339801.6:n.1007-8T>G | |
| ENST00000422081.6:c.374-8T>G | ENSP00000477056.1:n.374-8T>G | |
| ENST00000441880.1:n.114-8T>G | ||
| NM_000202.6:c.1007-8T>G | NP_000193.1:n.1007-8T>G | |
| NM_001166550.2:c.737-8T>G | NP_001160022.1:n.737-8T>G | |
| NM_000202.7:c.1007-8T>G | NP_000193.1:n.1007-8T>G | |
| NM_001166550.3:c.737-8T>G | NP_001160022.1:n.737-8T>G | |
| NM_000202.8:c.1007-8T>G MANE Select | NP_000193.1:n.1007-8T>G | |
| NM_001166550.4:c.737-8T>G | NP_001160022.1:n.737-8T>G |