Linked Data
ClinVar Variation Id:
11114
ClinVar RCV Id:
RCV000011863
dbSNP Id:
rs132630268
PubMed:
PMID:8528199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48684407G>T , CM000685.2:g.48684407G>T | GRCh38 |
| NC_000023.10:g.48542796G>T , CM000685.1:g.48542796G>T | GRCh37 |
| NC_000023.9:g.48427740G>T | NCBI36 |
| NG_007877.1:g.5611G>T , LRG_125:g.5611G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.290G>T | ||
| ENST00000698625.1:c.257G>T | ENSP00000513844.1:p.Arg86Leu | |
| ENST00000698626.1:c.257G>T | ENSP00000513845.1:p.Arg86Leu | |
| ENST00000698635.1:c.257G>T | ENSP00000513850.1:p.Arg86Leu | |
| ENST00000376701.5:c.257G>T MANE Select | ENSP00000365891.4:p.Arg86Leu | |
| ENST00000376701.4:c.257G>T | ENSP00000365891.4:p.Arg86Leu | |
| ENST00000450772.5:c.257G>T | ENSP00000410537.1:p.Arg86Leu | |
| ENST00000465982.5:n.292G>T | ||
| ENST00000483750.5:n.283G>T | ||
| NM_000377.2:c.257G>T , LRG_125t1:c.257G>T | NP_000368.1:p.Arg86Leu | |
| XM_011543977.1:c.257G>T | XP_011542279.1:p.Arg86Leu | |
| XM_011543977.2:c.257G>T | XP_011542279.1:p.Arg86Leu | |
| XM_017029786.1:c.257G>T | XP_016885275.1:p.Arg86Leu | |
| NM_000377.3:c.257G>T MANE Select | NP_000368.1:p.Arg86Leu |