Linked Data
ClinVar Variation Id:
56383
ClinVar RCV Id:
RCV000049796
dbSNP Id:
rs386833829
gnomAD v4:
14-22775833-C-A
PubMed:
PMID:15776427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22775833C>A , CM000676.2:g.22775833C>A | GRCh38 |
| NC_000014.8:g.23245042C>A , CM000676.1:g.23245042C>A | GRCh37 |
| NC_000014.7:g.22314882C>A | NCBI36 |
| NG_012851.2:g.58988G>T , LRG_695:g.58988G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.998G>T | ENSP00000452551.2:p.Arg333Met | |
| ENST00000698939.1:c.*64G>T | ENSP00000514047.1:n.*64G>T | |
| ENST00000698940.1:n.60G>T | ||
| ENST00000397532.9:c.998G>T | ENSP00000380666.4:p.Arg333Met | |
| ENST00000674313.1:c.998G>T MANE Select | ENSP00000501493.1:p.Arg333Met | |
| ENST00000285850.11:c.998G>T | ENSP00000285850.7:p.Arg333Met | |
| ENST00000397528.8:c.998G>T | ENSP00000380662.4:p.Arg333Met | |
| ENST00000397529.6:c.998G>T | ENSP00000380663.2:p.Arg333Met | |
| ENST00000397532.7:c.998G>T | ENSP00000380666.3:p.Arg333Met | |
| ENST00000554061.5:n.669G>T | ||
| ENST00000554517.5:c.200G>T | ENSP00000452083.1:p.Arg67Met | |
| ENST00000555702.5:c.998G>T | ENSP00000451881.1:p.Arg333Met | |
| ENST00000556287.5:c.895-293G>T | ENSP00000450715.1:n.895-293G>T | |
| ENST00000556350.1:c.142G>T | ||
| NM_001126105.2:c.998G>T , LRG_695t1:c.998G>T | NP_001119577.1:p.Arg333Met | |
| NM_001126106.2:c.998G>T , LRG_695t2:c.998G>T | NP_001119578.1:p.Arg333Met | |
| NR_040448.1:n.1613G>T | ||
| XM_006720302.1:c.998G>T | XP_006720365.1:p.Arg333Met | |
| XM_011537298.1:c.998G>T | XP_011535600.1:p.Arg333Met | |
| XM_011537299.1:c.998G>T | XP_011535601.1:p.Arg333Met | |
| XM_006720302.2:c.998G>T | XP_006720365.1:p.Arg333Met | |
| XM_011537298.3:c.998G>T | XP_011535600.1:p.Arg333Met | |
| NM_001126105.3:c.998G>T | NP_001119577.1:p.Arg333Met | |
| NM_001126106.4:c.998G>T | NP_001119578.1:p.Arg333Met | |
| NM_003982.4:c.998G>T MANE Select | NP_003973.3:p.Arg333Met |