Linked Data
ClinVar Variation Id:
16389
ClinVar RCV Id:
RCV000017815
dbSNP Id:
rs121909621
PubMed:
PMID:10666208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569703T>G , CM000666.2:g.154569703T>G | GRCh38 |
| NC_000004.11:g.155490855T>G , CM000666.1:g.155490855T>G | GRCh37 |
| NC_000004.10:g.155710305T>G | NCBI36 |
| NG_008833.1:g.11724T>G , LRG_558:g.11724T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1148T>G MANE Select | ENSP00000306099.4:p.Leu383Arg | |
| ENST00000302068.8:c.1148T>G | ENSP00000306099.4:p.Leu383Arg | |
| ENST00000502545.5:n.939+396T>G | ||
| ENST00000509493.1:c.491T>G | ENSP00000426757.1:p.Leu164Arg | |
| NM_001184741.1:c.971T>G | NP_001171670.1:p.Leu324Arg | |
| NM_005141.4:c.1148T>G , LRG_558t1:c.1148T>G | NP_005132.2:p.Leu383Arg | |
| NM_001382759.1:c.1016T>G | NP_001369688.1:p.Leu339Arg | |
| NM_001382760.1:c.1148T>G | NP_001369689.1:p.Leu383Arg | |
| NM_001382761.1:c.1148T>G | NP_001369690.1:p.Leu383Arg | |
| NM_001382762.1:c.848T>G | NP_001369691.1:p.Leu283Arg | |
| NM_001382763.1:c.1139T>G | NP_001369692.1:p.Leu380Arg | |
| NM_001382764.1:c.1080+68T>G | NP_001369693.1:n.1080+68T>G | |
| NM_001382765.1:c.1148T>G | NP_001369694.1:p.Leu383Arg | |
| NM_005141.5:c.1148T>G MANE Select | NP_005132.2:p.Leu383Arg |