Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128377804C>T , CM000667.2:g.128377804C>T | GRCh38 |
| NC_000005.9:g.127713497C>T , CM000667.1:g.127713497C>T | GRCh37 |
| NC_000005.8:g.127741396C>T | NCBI36 |
| NG_008750.1:g.165239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.1797G>A MANE Select | ENSP00000262464.4:p.Gln599= | |
| ENST00000262464.8:c.1797G>A | ENSP00000262464.4:p.Gln599= | |
| ENST00000508053.5:c.1797G>A | ENSP00000424571.1:p.Gln599= | |
| ENST00000508989.5:c.1698G>A | ENSP00000425596.1:p.Gln566= | |
| ENST00000511489.1:n.18G>A | ||
| ENST00000619499.4:c.1794G>A | ENSP00000482132.1:p.Gln598= | |
| NM_001999.3:c.1797G>A | NP_001990.2:p.Gln599= | |
| XM_017009228.2:c.1644G>A | XP_016864717.1:p.Gln548= | |
| NM_001999.4:c.1797G>A MANE Select | NP_001990.2:p.Gln599= |