Linked Data
ClinVar Variation Id:
1060189
ClinVar RCV Id:
RCV001369581
dbSNP Id:
rs756368327
ExAC:
22:19906396 C / T
gnomAD v2:
22-19906396-C-T
gnomAD v3:
22-19918873-C-T
gnomAD v4:
22-19918873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918873C>T , CM000684.2:g.19918873C>T | GRCh38 |
| NC_000022.10:g.19906396C>T , CM000684.1:g.19906396C>T | GRCh37 |
| NC_000022.9:g.18286396C>T | NCBI36 |
| NG_011835.1:g.27964G>A , LRG_417:g.27964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.361G>A MANE Select | ENSP00000383365.1:p.Val121Met | |
| ENST00000334363.14:c.361G>A | ENSP00000334451.9:p.Val121Met | |
| ENST00000400518.5:c.271G>A | ENSP00000383362.1:p.Val91Met | |
| ENST00000400519.6:c.358G>A | ENSP00000383363.1:p.Val120Met | |
| ENST00000400521.6:c.361G>A | ENSP00000383365.1:p.Val121Met | |
| ENST00000400525.6:c.292G>A | ENSP00000383369.3:p.Val98Met | |
| ENST00000474308.5:c.304G>A | ENSP00000485665.1:p.Val102Met | |
| ENST00000491939.6:c.265G>A | ENSP00000485543.1:p.Val89Met | |
| ENST00000496729.2:n.366G>A | ||
| ENST00000542719.6:c.73G>A | ENSP00000485128.2:p.Val25Met | |
| NM_001282512.1:c.361G>A | NP_001269441.1:p.Val121Met | |
| NM_006440.4:c.361G>A | NP_006431.2:p.Val121Met | |
| NM_001282512.2:c.361G>A | NP_001269441.1:p.Val121Met | |
| NM_001352300.1:c.358G>A | NP_001339229.1:p.Val120Met | |
| NM_001352301.1:c.271G>A | NP_001339230.1:p.Val91Met | |
| NM_001352302.1:c.73G>A | NP_001339231.1:p.Val25Met | |
| NM_001352303.1:c.265G>A | NP_001339232.1:p.Val89Met | |
| NR_147957.1:n.493G>A | ||
| NM_006440.5:c.361G>A MANE Select | NP_006431.2:p.Val121Met | |
| NM_001282512.3:c.361G>A | NP_001269441.1:p.Val121Met | |
| NM_001352300.2:c.358G>A | NP_001339229.1:p.Val120Met | |
| NR_147957.2:n.319G>A | ||
| NM_001352301.2:c.271G>A | NP_001339230.1:p.Val91Met | |
| NM_001352302.2:c.73G>A | NP_001339231.1:p.Val25Met | |
| NM_001352303.2:c.265G>A | NP_001339232.1:p.Val89Met |