Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451634A>T , CM000668.2:g.49451634A>T | GRCh38 |
| NC_000006.11:g.49419347A>T , CM000668.1:g.49419347A>T | GRCh37 |
| NC_000006.10:g.49527306A>T | NCBI36 |
| NG_007100.1:g.16506T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.1164T>A MANE Select | NP_000246.2:p.Asn388Lys |
| ENST00000274813.4:c.1164T>A MANE Select | ENSP00000274813.3:p.Asn388Lys |
| NM_000255.3:c.1164T>A | NP_000246.2:p.Asn388Lys |
| ENST00000274813.3:c.1164T>A | ENSP00000274813.3:p.Asn388Lys |
| XM_005249143.2:c.1164T>A | XP_005249200.1:p.Asn388Lys |
| XM_005249143.3:c.1164T>A | XP_005249200.1:p.Asn388Lys |