Linked Data
ClinVar Variation Id:
44735
ClinVar RCV Id:
RCV000037834
RCV000146014
RCV000211719
RCV000515247
RCV000516830
RCV001257560
RCV002228125
dbSNP Id:
rs111033299
ExAC:
13:20763438 C / T
gnomAD v2:
13-20763438-C-T
gnomAD v3:
13-20189299-C-T
gnomAD v4:
13-20189299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189299C>T , CM000675.2:g.20189299C>T | GRCh38 |
| NC_000013.10:g.20763438C>T , CM000675.1:g.20763438C>T | GRCh37 |
| NC_000013.9:g.19661438C>T | NCBI36 |
| NG_008358.1:g.8677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.283G>A | ENSP00000372295.1:p.Val95Met | |
| ENST00000382848.5:c.283G>A MANE Select | ENSP00000372299.4:p.Val95Met | |
| ENST00000382844.1:c.283G>A | ENSP00000372295.1:p.Val95Met | |
| ENST00000382848.4:c.283G>A | ENSP00000372299.4:p.Val95Met | |
| NM_004004.5:c.283G>A | NP_003995.2:p.Val95Met | |
| XM_011535049.1:c.283G>A | XP_011533351.1:p.Val95Met | |
| XM_011535049.2:c.283G>A | XP_011533351.1:p.Val95Met | |
| NM_004004.6:c.283G>A MANE Select | NP_003995.2:p.Val95Met |