Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110469253G>A , CM000675.2:g.110469253G>A | GRCh38 |
| NC_000013.10:g.111121600G>A , CM000675.1:g.111121600G>A | GRCh37 |
| NC_000013.9:g.109919601G>A | NCBI36 |
| NG_032137.1:g.166970G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.2132G>A MANE Select | NP_001837.2:p.Gly711Glu |
| ENST00000360467.7:c.2132G>A MANE Select | ENSP00000353654.5:p.Gly711Glu |
| NM_001846.2:c.2132G>A | NP_001837.2:p.Gly711Glu |
| NM_001846.3:c.2132G>A | NP_001837.2:p.Gly711Glu |
| ENST00000360467.5:c.2132G>A | ENSP00000353654.5:p.Gly711Glu |
| ENST00000494852.1:n.37G>A | |
| ENST00000494852.2:c.52G>A |