Linked Data
ClinVar Variation Id:
17520
ClinVar RCV Id:
RCV000019072
dbSNP Id:
rs121912812
ExAC:
15:74632009 G / A
gnomAD v2:
15-74632009-G-A
gnomAD v4:
15-74339668-G-A
COSMIC:
COSM1249558
PubMed:
PMID:16705068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339668G>A , CM000677.2:g.74339668G>A | GRCh38 |
| NC_000015.9:g.74632009G>A , CM000677.1:g.74632009G>A | GRCh37 |
| NC_000015.8:g.72419062G>A | NCBI36 |
| NG_007973.1:g.33074C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268053.11:c.1076C>T MANE Select | ENSP00000268053.6:p.Ala359Val | |
| ENST00000268053.10:c.1076C>T | ENSP00000268053.6:p.Ala359Val | |
| ENST00000358632.8:c.602C>T | ENSP00000351455.4:p.Ala201Val | |
| ENST00000435365.5:c.1076C>T | ENSP00000391081.1:p.Ala359Val | |
| ENST00000566674.5:c.602C>T | ENSP00000456941.1:p.Ala201Val | |
| NM_000781.2:c.1076C>T | NP_000772.2:p.Ala359Val | |
| NM_001099773.1:c.602C>T | NP_001093243.1:p.Ala201Val | |
| NM_000781.3:c.1076C>T MANE Select | NP_000772.2:p.Ala359Val | |
| NM_001099773.2:c.602C>T | NP_001093243.1:p.Ala201Val |