Linked Data
ClinVar Variation Id:
206344
dbSNP Id:
rs796052823
gnomAD v2:
X-99597062-A-G
gnomAD v4:
X-100342064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100342064A>G , CM000685.2:g.100342064A>G | GRCh38 |
| NC_000023.10:g.99597062A>G , CM000685.1:g.99597062A>G | GRCh37 |
| NC_000023.9:g.99483718A>G | NCBI36 |
| NG_021319.1:g.73210T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.2546T>C | ENSP00000255531.7:p.Phe849Ser | |
| ENST00000373034.8:c.2687T>C MANE Select | ENSP00000362125.4:p.Phe896Ser | |
| ENST00000420881.6:c.2543T>C | ENSP00000400327.2:p.Phe848Ser | |
| NM_001105243.1:c.2546T>C | NP_001098713.1:p.Phe849Ser | |
| NM_001184880.1:c.2687T>C | NP_001171809.1:p.Phe896Ser | |
| NM_020766.2:c.2543T>C | NP_065817.2:p.Phe848Ser | |
| XM_011530997.1:c.2684T>C | XP_011529299.1:p.Phe895Ser | |
| XM_011530997.2:c.2684T>C | XP_011529299.1:p.Phe895Ser | |
| NM_001105243.2:c.2546T>C | NP_001098713.1:p.Phe849Ser | |
| NM_001184880.2:c.2687T>C MANE Select | NP_001171809.1:p.Phe896Ser | |
| NM_020766.3:c.2543T>C | NP_065817.2:p.Phe848Ser |