ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128278778C>T , CM000667.2:g.128278778C>T | GRCh38 |
| NC_000005.9:g.127614470C>T , CM000667.1:g.127614470C>T | GRCh37 |
| NC_000005.8:g.127642369C>T | NCBI36 |
| NG_008750.1:g.264266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3986G>A | ||
| ENST00000262464.9:c.7202G>A MANE Select | ENSP00000262464.4:p.Ser2401Asn | |
| ENST00000262464.8:c.7202G>A | ENSP00000262464.4:p.Ser2401Asn | |
| ENST00000508053.5:c.7202G>A | ENSP00000424571.1:p.Ser2401Asn | |
| ENST00000619499.4:c.7199G>A | ENSP00000482132.1:p.Ser2400Asn | |
| NM_001999.3:c.7202G>A | NP_001990.2:p.Ser2401Asn | |
| XM_017009228.2:c.7049G>A | XP_016864717.1:p.Ser2350Asn | |
| NM_001999.4:c.7202G>A MANE Select | NP_001990.2:p.Ser2401Asn |