Linked Data
ClinVar Variation Id:
95879
dbSNP Id:
rs149153003
ExAC:
22:18567938 C / T
gnomAD v2:
22-18567938-C-T
gnomAD v3:
22-18085172-C-T
gnomAD v4:
22-18085172-C-T
COSMIC:
COSM725634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18085172C>T , CM000684.2:g.18085172C>T | GRCh38 |
| NC_000022.10:g.18567938C>T , CM000684.1:g.18567938C>T | GRCh37 |
| NC_000022.9:g.16947938C>T | NCBI36 |
| NG_008339.1:g.12253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.728C>T MANE Select | ENSP00000382648.4:p.Ala243Val | |
| ENST00000474897.6:c.728C>T | ENSP00000434235.2:p.Ala243Val | |
| ENST00000329627.11:c.728C>T | ENSP00000331106.5:p.Ala243Val | |
| ENST00000399744.7:c.728C>T | ENSP00000382648.3:p.Ala243Val | |
| ENST00000428061.2:c.667+1440C>T | ENSP00000412441.2:n.667+1440C>T | |
| ENST00000474897.5:c.371+5158C>T | ENSP00000434235.1:n.371+5158C>T | |
| ENST00000610387.4:c.667+1440C>T | ENSP00000482091.1:n.667+1440C>T | |
| NM_001127649.2:c.728C>T | NP_001121121.1:p.Ala243Val | |
| NM_001199319.1:c.667+1440C>T | NP_001186248.1:n.667+1440C>T | |
| NM_017929.5:c.728C>T | NP_060399.1:p.Ala243Val | |
| NM_001127649.3:c.728C>T MANE Select | NP_001121121.1:p.Ala243Val | |
| NM_001199319.2:c.667+1440C>T | NP_001186248.1:n.667+1440C>T | |
| NM_017929.6:c.728C>T | NP_060399.1:p.Ala243Val |