Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357348T>C , CM000667.2:g.128357348T>C | GRCh38 |
| NC_000005.9:g.127693040T>C , CM000667.1:g.127693040T>C | GRCh37 |
| NC_000005.8:g.127720939T>C | NCBI36 |
| NG_008750.1:g.185696A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2602A>G MANE Select | ENSP00000262464.4:p.Asn868Asp | |
| ENST00000262464.8:c.2602A>G | ENSP00000262464.4:p.Asn868Asp | |
| ENST00000508053.5:c.2602A>G | ENSP00000424571.1:p.Asn868Asp | |
| ENST00000508989.5:c.2503A>G | ENSP00000425596.1:p.Asn835Asp | |
| ENST00000619499.4:c.2599A>G | ENSP00000482132.1:p.Asn867Asp | |
| NM_001999.3:c.2602A>G | NP_001990.2:p.Asn868Asp | |
| XM_017009228.2:c.2449A>G | XP_016864717.1:p.Asn817Asp | |
| NM_001999.4:c.2602A>G MANE Select | NP_001990.2:p.Asn868Asp |