Linked Data
ClinVar Variation Id:
2114095
ClinVar RCV Id:
RCV003042613
gnomAD v4:
17-12992931-C-T
COSMIC:
COSM1205172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992931C>T , CM000679.2:g.12992931C>T | GRCh38 |
| NC_000017.10:g.12896248C>T , CM000679.1:g.12896248C>T | GRCh37 |
| NC_000017.9:g.12836973C>T | NCBI36 |
| NG_015808.1:g.30134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2368G>A MANE Select | ENSP00000337445.4:p.Val790Met | |
| ENST00000338034.8:c.2368G>A | ENSP00000337445.4:p.Val790Met | |
| ENST00000395962.6:c.2311G>A | ENSP00000379291.1:p.Val771Met | |
| ENST00000426905.7:c.2248G>A | ENSP00000405223.3:p.Val750Met | |
| ENST00000465825.5:n.2255G>A | ||
| ENST00000480891.5:n.2197G>A | ||
| ENST00000484122.5:n.3198G>A | ||
| ENST00000487229.6:n.1914G>A | ||
| ENST00000584650.5:c.1767G>A | ||
| NM_001165962.1:c.2248G>A | NP_001159434.1:p.Val750Met | |
| NM_018127.6:c.2368G>A | NP_060597.4:p.Val790Met | |
| NM_173717.1:c.2365G>A | NP_776065.1:p.Val789Met | |
| XM_024450850.1:c.2527G>A | XP_024306618.1:p.Val843Met | |
| XM_024450851.1:c.2449G>A | XP_024306619.1:p.Val817Met | |
| XM_024450852.1:c.2446G>A | XP_024306620.1:p.Val816Met | |
| XM_024450853.1:c.2443G>A | XP_024306621.1:p.Val815Met | |
| XM_024450854.1:c.2407G>A | XP_024306622.1:p.Val803Met | |
| XM_024450855.1:c.2326G>A | XP_024306623.1:p.Val776Met | |
| XM_024450856.1:c.2245G>A | XP_024306624.1:p.Val749Met | |
| XM_024450857.1:c.2245G>A | XP_024306625.1:p.Val749Met | |
| XM_024450858.1:c.2164G>A | XP_024306626.1:p.Val722Met | |
| XM_024450859.1:c.2161G>A | XP_024306627.1:p.Val721Met | |
| XM_024450860.1:c.2086G>A | XP_024306628.1:p.Val696Met | |
| XM_024450861.1:c.2086G>A | XP_024306629.1:p.Val696Met | |
| XM_024450862.1:c.2083G>A | XP_024306630.1:p.Val695Met | |
| NM_018127.7:c.2368G>A MANE Select | NP_060597.4:p.Val790Met | |
| NM_001165962.2:c.2248G>A | NP_001159434.1:p.Val750Met | |
| NM_173717.2:c.2365G>A | NP_776065.1:p.Val789Met |