Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474874T>G , CM000684.2:g.32474874T>G | GRCh38 |
| NC_000022.10:g.32870861T>G , CM000684.1:g.32870861T>G | GRCh37 |
| NC_000022.9:g.31200861T>G | NCBI36 |
| NG_016001.1:g.5155T>G | |
| NG_016001.2:g.5155T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-129T>G MANE Select | ENSP00000266087.7:n.-129T>G | |
| ENST00000266087.11:c.-129T>G | ENSP00000266087.7:n.-129T>G | |
| ENST00000420700.5:c.-129T>G | ENSP00000406155.1:n.-129T>G | |
| ENST00000425028.5:c.-129T>G | ENSP00000395823.1:n.-129T>G | |
| NM_012179.3:c.-129T>G | NP_036311.3:n.-129T>G | |
| XM_011530106.1:c.-302T>G | XP_011528408.1:n.-302T>G | |
| XM_024452207.1:c.-319T>G | XP_024307975.1:n.-319T>G | |
| NM_012179.4:c.-129T>G MANE Select | NP_036311.3:n.-129T>G |