Linked Data
ClinVar Variation Id:
1004866
ClinVar RCV Id:
RCV002539477
dbSNP Id:
rs1751148544
gnomAD v4:
5-1293667-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293667C>G , CM000667.2:g.1293667C>G | GRCh38 |
| NC_000005.9:g.1293782C>G , CM000667.1:g.1293782C>G | GRCh37 |
| NC_000005.8:g.1346782C>G | NCBI36 |
| NG_009265.1:g.6381G>C , LRG_343:g.6381G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.1219G>C MANE Select | ENSP00000309572.5:p.Val407Leu | |
| ENST00000656021.1:c.1219G>C | ENSP00000499759.1:p.Val407Leu | |
| ENST00000310581.9:c.1219G>C | ENSP00000309572.5:p.Val407Leu | |
| ENST00000334602.10:c.1219G>C | ENSP00000334346.6:p.Val407Leu | |
| ENST00000460137.6:c.1219G>C | ENSP00000425003.1:p.Val407Leu | |
| ENST00000508104.2:c.1219G>C | ENSP00000426042.2:p.Val407Leu | |
| NM_001193376.1:c.1219G>C | NP_001180305.1:p.Val407Leu | |
| NM_198253.2:c.1219G>C , LRG_343t1:c.1219G>C | NP_937983.2:p.Val407Leu | |
| NR_149162.1:n.1277G>C | ||
| NR_149163.1:n.1277G>C | ||
| NM_001193376.2:c.1219G>C | NP_001180305.1:p.Val407Leu | |
| NM_198253.3:c.1219G>C MANE Select | NP_937983.2:p.Val407Leu | |
| NR_149162.2:n.1298G>C | ||
| NR_149163.2:n.1298G>C | ||
| NM_001193376.3:c.1219G>C | NP_001180305.1:p.Val407Leu | |
| NR_149162.3:n.1298G>C | ||
| NR_149163.3:n.1298G>C |