Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80728931G>T , CM000667.2:g.80728931G>T | GRCh38 |
| NC_000005.9:g.80024750G>T , CM000667.1:g.80024750G>T | GRCh37 |
| NC_000005.8:g.80060506G>T | NCBI36 |
| NG_016607.1:g.79457G>T | |
| NG_016607.2:g.79457G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.1534G>T MANE Select | NP_002430.3:p.Glu512Ter |
| ENST00000265081.7:c.1534G>T MANE Select | ENSP00000265081.6:p.Glu512Ter |
| NM_002439.4:c.1534G>T | NP_002430.3:p.Glu512Ter |
| ENST00000265081.6:c.1534G>T | ENSP00000265081.6:p.Glu512Ter |
| ENST00000512258.1:n.383G>T | |
| ENST00000658259.1:c.1366G>T | ENSP00000499617.1:p.Glu456Ter |
| ENST00000667069.1:c.1534G>T | ENSP00000499502.1:p.Glu512Ter |
| ENST00000670357.1:c.1534G>T | ENSP00000499791.1:p.Glu512Ter |