Linked Data
ClinVar Variation Id:
11120
ClinVar RCV Id:
RCV000011869
dbSNP Id:
rs587776742
PubMed:
PMID:16511828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683854A>T , CM000685.2:g.48683854A>T | GRCh38 |
| NC_000023.10:g.48542243A>T , CM000685.1:g.48542243A>T | GRCh37 |
| NC_000023.9:g.48427187A>T | NCBI36 |
| NG_007877.1:g.5058A>T , LRG_125:g.5058A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.34A>T | ||
| ENST00000698625.1:c.1A>T | ENSP00000513844.1:p.Met1Leu | |
| ENST00000698626.1:c.1A>T | ENSP00000513845.1:p.Met1Leu | |
| ENST00000698635.1:c.1A>T | ENSP00000513850.1:p.Met1Leu | |
| ENST00000376701.5:c.1A>T MANE Select | ENSP00000365891.4:p.Met1Leu | |
| ENST00000376701.4:c.1A>T | ENSP00000365891.4:p.Met1Leu | |
| ENST00000450772.5:c.1A>T | ENSP00000410537.1:p.Met1Leu | |
| ENST00000465982.5:n.36A>T | ||
| ENST00000483750.5:n.27A>T | ||
| NM_000377.2:c.1A>T , LRG_125t1:c.1A>T | NP_000368.1:p.Met1Leu | |
| XM_011543977.1:c.1A>T | XP_011542279.1:p.Met1Leu | |
| XM_011543977.2:c.1A>T | XP_011542279.1:p.Met1Leu | |
| XM_017029786.1:c.1A>T | XP_016885275.1:p.Met1Leu | |
| NM_000377.3:c.1A>T MANE Select | NP_000368.1:p.Met1Leu |