Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966699G>T , CM000681.2:g.48966699G>T | GRCh38 |
| NC_000019.9:g.49469956G>T , CM000681.1:g.49469956G>T | GRCh37 |
| NC_000019.8:g.54161768G>T | NCBI36 |
| NG_008152.1:g.6391G>T | |
| NG_012923.1:g.31655C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.492G>T MANE Select | NP_000137.2:p.Glu164Asp |
| ENST00000331825.11:c.492G>T MANE Select | ENSP00000366525.2:p.Glu164Asp |
| NM_000146.3:c.492G>T | NP_000137.2:p.Glu164Asp |
| ENST00000331825.10:c.492G>T | ENSP00000366525.2:p.Glu164Asp |
| ENST00000622577.2:c.492G>T | ENSP00000484043.1:p.Glu164Asp |
| XM_024451447.1:c.1002G>T | XP_024307215.1:p.Glu334Asp |