Linked Data
ClinVar Variation Id:
7485
ClinVar RCV Id:
RCV000007913
dbSNP Id:
rs121909113
gnomAD v4:
7-76303007-C-A
PubMed:
PMID:18832141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303007C>A , CM000669.2:g.76303007C>A | GRCh38 |
| NC_000007.13:g.75932324C>A , CM000669.1:g.75932324C>A | GRCh37 |
| NC_000007.12:g.75770260C>A | NCBI36 |
| NG_008995.1:g.5450C>A , LRG_248:g.5450C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248553.7:c.295C>A MANE Select | ENSP00000248553.6:p.Leu99Met | |
| ENST00000674547.1:c.295C>A | ENSP00000502461.1:p.Leu99Met | |
| ENST00000674560.1:n.335C>A | ||
| ENST00000674638.1:c.295C>A | ENSP00000502651.1:p.Leu99Met | |
| ENST00000674650.1:c.295C>A | ENSP00000501628.1:p.Leu99Met | |
| ENST00000674965.1:c.295C>A | ENSP00000501765.1:p.Leu99Met | |
| ENST00000675134.1:c.295C>A | ENSP00000501831.1:p.Leu99Met | |
| ENST00000675226.1:c.295C>A | ENSP00000502510.1:p.Leu99Met | |
| ENST00000675488.1:n.335C>A | ||
| ENST00000675538.1:c.295C>A | ENSP00000502495.1:p.Leu99Met | |
| ENST00000675624.1:n.335C>A | ||
| ENST00000675733.1:n.335C>A | ||
| ENST00000675906.1:c.295C>A | ENSP00000502714.1:p.Leu99Met | |
| ENST00000676231.1:c.295C>A | ENSP00000502249.1:p.Leu99Met | |
| ENST00000676398.1:n.335C>A | ||
| ENST00000248553.6:c.295C>A | ENSP00000248553.6:p.Leu99Met | |
| ENST00000447574.1:c.295C>A | ENSP00000414357.1:p.Leu99Met | |
| NM_001540.3:c.295C>A , LRG_248t1:c.295C>A | NP_001531.1:p.Leu99Met | |
| NM_001540.4:c.295C>A | NP_001531.1:p.Leu99Met | |
| NM_001540.5:c.295C>A MANE Select | NP_001531.1:p.Leu99Met |