Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1270992G>A , CM000679.2:g.1270992G>A | GRCh38 |
| NC_000017.10:g.1174286G>A , CM000679.1:g.1174286G>A | GRCh37 |
| NC_000017.9:g.1121036G>A | NCBI36 |
| NG_042055.1:g.5429G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001164405.2:c.429G>A MANE Select | NP_001157877.1:p.Gly143= |
| ENST00000391429.2:c.429G>A MANE Select | ENSP00000375248.1:p.Gly143= |
| NM_001164405.1:c.429G>A | NP_001157877.1:p.Gly143= |
| ENST00000391429.1:c.429G>A | ENSP00000375248.1:p.Gly143= |