Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80873118G>T , CM000667.2:g.80873118G>T | GRCh38 |
| NC_000005.9:g.80168937G>T , CM000667.1:g.80168937G>T | GRCh37 |
| NC_000005.8:g.80204693G>T | NCBI36 |
| NG_016607.1:g.223644G>T | |
| NG_016607.2:g.223644G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3133G>T MANE Select | NP_002430.3:p.Ala1045Ser |
| ENST00000265081.7:c.3133G>T MANE Select | ENSP00000265081.6:p.Ala1045Ser |
| NM_002439.4:c.3133G>T | NP_002430.3:p.Ala1045Ser |
| ENST00000265081.6:c.3133G>T | ENSP00000265081.6:p.Ala1045Ser |
| ENST00000658259.1:c.2965G>T | ENSP00000499617.1:p.Ala989Ser |
| ENST00000659302.1:c.541G>T | |
| ENST00000667069.1:c.2938G>T | ENSP00000499502.1:p.Ala980Ser |
| ENST00000670357.1:c.*457G>T | ENSP00000499791.1:n.*457G>T |