Linked Data
ClinVar Variation Id:
498833
dbSNP Id:
rs2228159
ExAC:
10:90983580 A / G
gnomAD v2:
10-90983580-A-G
gnomAD v3:
10-89223823-A-G
gnomAD v4:
10-89223823-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89223823A>G , CM000672.2:g.89223823A>G | GRCh38 |
| NC_000010.10:g.90983580A>G , CM000672.1:g.90983580A>G | GRCh37 |
| NC_000010.9:g.90973560A>G | NCBI36 |
| NG_008194.1:g.33081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.683T>C MANE Select | ENSP00000337354.5:p.Phe228Ser | |
| ENST00000336233.9:c.683T>C | ENSP00000337354.5:p.Phe228Ser | |
| ENST00000371837.5:c.515T>C | ENSP00000360903.1:p.Phe172Ser | |
| ENST00000428800.5:c.683T>C | ENSP00000388415.1:p.Phe228Ser | |
| ENST00000456827.5:c.335T>C | ENSP00000413019.2:p.Phe112Ser | |
| NM_000235.3:c.683T>C | NP_000226.2:p.Phe228Ser | |
| NM_001127605.2:c.683T>C | NP_001121077.1:p.Phe228Ser | |
| NM_001288979.1:c.335T>C | NP_001275908.1:p.Phe112Ser | |
| XM_024448023.1:c.683T>C | XP_024303791.1:p.Phe228Ser | |
| NM_000235.4:c.683T>C MANE Select | NP_000226.2:p.Phe228Ser | |
| NM_001127605.3:c.683T>C | NP_001121077.1:p.Phe228Ser | |
| NM_001288979.2:c.335T>C | NP_001275908.1:p.Phe112Ser |