Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20369318G>A , CM000674.2:g.20369318G>A | GRCh38 |
| NC_000012.11:g.20522252G>A , CM000674.1:g.20522252G>A | GRCh37 |
| NC_000012.10:g.20413519G>A | NCBI36 |
| NG_030033.1:g.5074G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000921.5:c.34G>A MANE Select | NP_000912.3:p.Asp12Asn |
| ENST00000359062.4:c.34G>A MANE Select | ENSP00000351957.3:p.Asp12Asn |
| NM_000921.4:c.34G>A | NP_000912.3:p.Asp12Asn |
| NM_001378407.1:c.34G>A | NP_001365336.1:p.Asp12Asn |
| NM_001378408.1:c.-995G>A | NP_001365337.1:n.-995G>A |
| ENST00000359062.3:c.34G>A | ENSP00000351957.3:p.Asp12Asn |
| XM_006719086.2:c.34G>A | XP_006719149.2:p.Asp12Asn |
| XM_017019420.1:c.34G>A | XP_016874909.1:p.Asp12Asn |