Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685406C>A , CM000667.2:g.74685406C>A | GRCh38 |
| NC_000005.9:g.73981231C>A , CM000667.1:g.73981231C>A | GRCh37 |
| NC_000005.8:g.74016987C>A | NCBI36 |
| NG_009770.1:g.5263C>A | |
| NG_009770.2:g.50384C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.146C>A MANE Select | NP_000512.2:p.Ser49Ter |
| ENST00000261416.12:c.146C>A MANE Select | ENSP00000261416.7:p.Ser49Ter |
| NM_000521.3:c.146C>A | NP_000512.1:p.Ser49Ter |
| NM_001292004.1:c.-376-3922C>A | NP_001278933.1:n.-376-3922C>A |
| NM_001292004.2:c.-376-3922C>A | NP_001278933.1:n.-376-3922C>A |
| ENST00000261416.11:c.146C>A | ENSP00000261416.7:p.Ser49Ter |
| ENST00000511181.5:c.-376-3922C>A | ENSP00000426285.1:n.-376-3922C>A |
| ENST00000513079.5:n.211C>A | |
| ENST00000515528.1:n.201C>A |