Linked Data
ClinVar Variation Id:
2411628
ClinVar RCV Id:
RCV002779798
dbSNP Id:
rs758638641
gnomAD v2:
2-113514450-C-A
gnomAD v3:
2-112756873-C-A
gnomAD v4:
2-112756873-C-A
COSMIC:
COSM4598062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756873C>A , CM000664.2:g.112756873C>A | GRCh38 |
| NC_000002.11:g.113514450C>A , CM000664.1:g.113514450C>A | GRCh37 |
| NC_000002.10:g.113230921C>A | NCBI36 |
| NG_041820.1:g.12805G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.498G>T MANE Select | ENSP00000305204.6:p.Met166Ile | |
| ENST00000302450.10:c.498G>T | ENSP00000305204.6:p.Met166Ile | |
| ENST00000435431.5:c.478+20G>T | ENSP00000414834.1:n.478+20G>T | |
| ENST00000481732.5:n.459G>T | ||
| NM_001304361.1:c.3G>T | NP_001291290.1:p.Met1Ile | |
| NM_152515.4:c.498G>T | NP_689728.3:p.Met166Ile | |
| NR_130712.1:n.557+20G>T | ||
| XM_011510666.1:c.3G>T | XP_011508968.1:p.Met1Ile | |
| XM_011510666.2:c.3G>T | XP_011508968.1:p.Met1Ile | |
| NM_152515.5:c.498G>T MANE Select | NP_689728.3:p.Met166Ile | |
| NM_001304361.2:c.3G>T | NP_001291290.1:p.Met1Ile | |
| NR_130712.2:n.489+20G>T |