Linked Data
ClinVar Variation Id:
16306
ClinVar RCV Id:
RCV000017699
dbSNP Id:
rs72549323
ExAC:
1:171072991 G / T
gnomAD v2:
1-171072991-G-T
gnomAD v3:
1-171103850-G-T
gnomAD v4:
1-171103850-G-T
COSMIC:
COSM1336186
PubMed:
PMID:10338091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171103850G>T , CM000663.2:g.171103850G>T | GRCh38 |
| NC_000001.10:g.171072991G>T , CM000663.1:g.171072991G>T | GRCh37 |
| NC_000001.9:g.169339615G>T | NCBI36 |
| NG_012690.1:g.17974G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.198G>T MANE Select | ENSP00000356729.4:p.Met66Ile | |
| ENST00000367755.8:c.198G>T | ENSP00000356729.4:p.Met66Ile | |
| ENST00000472784.5:c.*178G>T | ENSP00000476963.1:n.*178G>T | |
| ENST00000478457.1:n.511G>T | ||
| ENST00000479749.1:c.198G>T | ENSP00000477451.1:p.Met66Ile | |
| NM_001002294.2:c.198G>T | NP_001002294.1:p.Met66Ile | |
| NM_006894.5:c.198G>T | NP_008825.4:p.Met66Ile | |
| XM_005245044.1:c.133-3825G>T | XP_005245101.1:n.133-3825G>T | |
| XM_011509345.1:c.138G>T | XP_011507647.1:p.Met46Ile | |
| XM_011509346.1:c.138G>T | XP_011507648.1:p.Met46Ile | |
| NM_001319173.1:c.138G>T | NP_001306102.1:p.Met46Ile | |
| NM_001319174.1:c.133-3825G>T | NP_001306103.1:n.133-3825G>T | |
| XM_011509345.3:c.138G>T | XP_011507647.1:p.Met46Ile | |
| NM_001002294.3:c.198G>T MANE Select | NP_001002294.1:p.Met66Ile | |
| NM_001319173.2:c.138G>T | NP_001306102.1:p.Met46Ile | |
| NM_001319174.2:c.133-3825G>T | NP_001306103.1:n.133-3825G>T | |
| NM_006894.6:c.198G>T | NP_008825.4:p.Met66Ile |