ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50916718T>C , CM000676.2:g.50916718T>C | GRCh38 |
| NC_000014.8:g.51383436T>C , CM000676.1:g.51383436T>C | GRCh37 |
| NC_000014.7:g.50453186T>C | NCBI36 |
| NG_012796.1:g.32813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1016A>G MANE Select | ENSP00000216392.7:p.Asn339Ser | |
| ENST00000216392.7:c.1016A>G | ENSP00000216392.7:p.Asn339Ser | |
| ENST00000532462.5:c.1016A>G | ENSP00000431657.1:p.Asn339Ser | |
| ENST00000544180.6:c.914A>G | ENSP00000443787.1:p.Asn305Ser | |
| NM_001163940.1:c.914A>G | NP_001157412.1:p.Asn305Ser | |
| NM_002863.4:c.1016A>G | NP_002854.3:p.Asn339Ser | |
| NM_002863.5:c.1016A>G MANE Select | NP_002854.3:p.Asn339Ser | |
| NM_001163940.2:c.914A>G | NP_001157412.1:p.Asn305Ser |