Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206900C>G , CM000667.2:g.81206900C>G | GRCh38 |
| NC_000005.9:g.80502719C>G , CM000667.1:g.80502719C>G | GRCh37 |
| NC_000005.8:g.80538475C>G | NCBI36 |
| NG_030334.1:g.251212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2962C>G MANE Select | ENSP00000265080.4:p.Gln988Glu | |
| ENST00000265080.8:c.2962C>G | ENSP00000265080.4:p.Gln988Glu | |
| ENST00000503795.1:c.2962C>G | ENSP00000421771.1:p.Gln988Glu | |
| NM_006909.2:c.2962C>G | NP_008840.1:p.Gln988Glu | |
| XM_017009682.2:c.2677C>G | XP_016865171.1:p.Gln893Glu | |
| XR_002956166.1:n.3078C>G | ||
| NM_006909.3:c.2962C>G MANE Select | NP_008840.1:p.Gln988Glu |