Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128318879C>T , CM000667.2:g.128318879C>T | GRCh38 |
| NC_000005.9:g.127654571C>T , CM000667.1:g.127654571C>T | GRCh37 |
| NC_000005.8:g.127682470C>T | NCBI36 |
| NG_008750.1:g.224165G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.1378G>A | ||
| ENST00000703785.1:n.1459G>A | ||
| ENST00000262464.9:c.4594G>A MANE Select | ENSP00000262464.4:p.Asp1532Asn | |
| ENST00000262464.8:c.4594G>A | ENSP00000262464.4:p.Asp1532Asn | |
| ENST00000508053.5:c.4594G>A | ENSP00000424571.1:p.Asp1532Asn | |
| ENST00000619499.4:c.4591G>A | ENSP00000482132.1:p.Asp1531Asn | |
| NM_001999.3:c.4594G>A | NP_001990.2:p.Asp1532Asn | |
| XM_017009228.2:c.4441G>A | XP_016864717.1:p.Asp1481Asn | |
| NM_001999.4:c.4594G>A MANE Select | NP_001990.2:p.Asp1532Asn |