Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397400C>T , CM000681.2:g.1397400C>T | GRCh38 |
| NC_000019.9:g.1397399C>T , CM000681.1:g.1397399C>T | GRCh37 |
| NC_000019.8:g.1348399C>T | NCBI36 |
| NG_008283.1:g.18517C>T | |
| NG_009785.1:g.9154G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.670G>A MANE Select | NP_000147.1:p.Ala224Thr |
| ENST00000252288.8:c.670G>A MANE Select | ENSP00000252288.1:p.Ala224Thr |
| NM_000156.5:c.670G>A | NP_000147.1:p.Ala224Thr |
| ENST00000252288.6:c.670G>A | ENSP00000252288.1:p.Ala224Thr |
| ENST00000640164.1:n.503G>A | |
| ENST00000640762.1:c.601G>A | ENSP00000492031.1:p.Ala201Thr |