Linked Data
ClinVar Variation Id:
1716437
ClinVar RCV Id:
RCV002303494
dbSNP Id:
rs1166215201
gnomAD v2:
10-82039986-C-T
gnomAD v4:
10-80280230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280230C>T , CM000672.2:g.80280230C>T | GRCh38 |
| NC_000010.10:g.82039986C>T , CM000672.1:g.82039986C>T | GRCh37 |
| NC_000010.9:g.82029966C>T | NCBI36 |
| NG_008083.1:g.14449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.492G>A MANE Select | ENSP00000361287.3:p.Met164Ile | |
| ENST00000372213.7:c.492G>A | ENSP00000361287.3:p.Met164Ile | |
| ENST00000455001.1:c.303G>A | ENSP00000414961.1:p.Met101Ile | |
| NM_000429.2:c.492G>A | NP_000420.1:p.Met164Ile | |
| XM_005269842.3:c.492G>A | XP_005269899.1:p.Met164Ile | |
| XM_005269843.3:c.369G>A | XP_005269900.1:p.Met123Ile | |
| NM_000429.3:c.492G>A MANE Select | NP_000420.1:p.Met164Ile |