Linked Data
ClinVar Variation Id:
1496754
ClinVar RCV Id:
RCV001992038
dbSNP Id:
rs1329985456
gnomAD v2:
22-18561353-G-T
gnomAD v4:
22-18078587-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078587G>T , CM000684.2:g.18078587G>T | GRCh38 |
| NC_000022.10:g.18561353G>T , CM000684.1:g.18561353G>T | GRCh37 |
| NC_000022.9:g.16941353G>T | NCBI36 |
| NG_008339.1:g.5668G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.211G>T MANE Select | ENSP00000382648.4:p.Ala71Ser | |
| ENST00000474897.6:c.211G>T | ENSP00000434235.2:p.Ala71Ser | |
| ENST00000329627.11:c.211G>T | ENSP00000331106.5:p.Ala71Ser | |
| ENST00000399744.7:c.211G>T | ENSP00000382648.3:p.Ala71Ser | |
| ENST00000428061.2:c.211G>T | ENSP00000412441.2:p.Ala71Ser | |
| ENST00000474897.5:c.211G>T | ENSP00000434235.1:p.Ala71Ser | |
| ENST00000610387.4:c.211G>T | ENSP00000482091.1:p.Ala71Ser | |
| NM_001127649.2:c.211G>T | NP_001121121.1:p.Ala71Ser | |
| NM_001199319.1:c.211G>T | NP_001186248.1:p.Ala71Ser | |
| NM_017929.5:c.211G>T | NP_060399.1:p.Ala71Ser | |
| NM_001127649.3:c.211G>T MANE Select | NP_001121121.1:p.Ala71Ser | |
| NM_001199319.2:c.211G>T | NP_001186248.1:p.Ala71Ser | |
| NM_017929.6:c.211G>T | NP_060399.1:p.Ala71Ser |