Linked Data
ClinVar Variation Id:
16314
dbSNP Id:
rs72549332
ExAC:
1:171086285 G / A
gnomAD v2:
1-171086285-G-A
gnomAD v3:
1-171117145-G-A
gnomAD v4:
1-171117145-G-A
COSMIC:
COSM3478251
PubMed:
PMID:11191884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171117145G>A , CM000663.2:g.171117145G>A | GRCh38 |
| NC_000001.10:g.171086285G>A , CM000663.1:g.171086285G>A | GRCh37 |
| NC_000001.9:g.169352909G>A | NCBI36 |
| NG_012690.1:g.31268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.1302G>A MANE Select | ENSP00000356729.4:p.Met434Ile | |
| ENST00000367755.8:c.1302G>A | ENSP00000356729.4:p.Met434Ile | |
| NM_001002294.2:c.1302G>A | NP_001002294.1:p.Met434Ile | |
| NM_006894.5:c.1302G>A | NP_008825.4:p.Met434Ile | |
| XM_005245044.1:c.1113G>A | XP_005245101.1:p.Met371Ile | |
| XM_011509345.1:c.1242G>A | XP_011507647.1:p.Met414Ile | |
| XM_011509346.1:c.1242G>A | XP_011507648.1:p.Met414Ile | |
| NM_001319173.1:c.1242G>A | NP_001306102.1:p.Met414Ile | |
| NM_001319174.1:c.1113G>A | NP_001306103.1:p.Met371Ile | |
| XM_011509345.3:c.1242G>A | XP_011507647.1:p.Met414Ile | |
| XM_024454365.1:c.555G>A | XP_024310133.1:p.Met185Ile | |
| NM_001002294.3:c.1302G>A MANE Select | NP_001002294.1:p.Met434Ile | |
| NM_001319173.2:c.1242G>A | NP_001306102.1:p.Met414Ile | |
| NM_001319174.2:c.1113G>A | NP_001306103.1:p.Met371Ile | |
| NM_006894.6:c.1302G>A | NP_008825.4:p.Met434Ile |