Linked Data
ClinVar Variation Id:
39263
ClinVar RCV Id:
RCV000032540
dbSNP Id:
rs199476188
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186196010T>G , CM000666.2:g.186196010T>G | GRCh38 |
| NC_000004.11:g.187117164T>G , CM000666.1:g.187117164T>G | GRCh37 |
| NC_000004.10:g.187354158T>G | NCBI36 |
| NG_007965.1:g.9491T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.335T>G MANE Select | ENSP00000368079.4:p.Leu112Ter | |
| ENST00000378802.4:c.335T>G | ENSP00000368079.4:p.Leu112Ter | |
| NM_207352.3:c.335T>G | NP_997235.3:p.Leu112Ter | |
| XM_005262935.2:c.335T>G | XP_005262992.1:p.Leu112Ter | |
| XM_006714184.2:c.18-930T>G | XP_006714247.1:n.18-930T>G | |
| XM_005262935.4:c.335T>G | XP_005262992.1:p.Leu112Ter | |
| XM_017008037.1:c.18-930T>G | XP_016863526.1:n.18-930T>G | |
| NM_207352.4:c.335T>G MANE Select | NP_997235.3:p.Leu112Ter |