Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128311919G>A , CM000667.2:g.128311919G>A | GRCh38 |
| NC_000005.9:g.127647611G>A , CM000667.1:g.127647611G>A | GRCh37 |
| NC_000005.8:g.127675510G>A | NCBI36 |
| NG_008750.1:g.231125C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.4914C>T MANE Select | NP_001990.2:p.Gly1638= |
| ENST00000262464.9:c.4914C>T MANE Select | ENSP00000262464.4:p.Gly1638= |
| NM_001999.3:c.4914C>T | NP_001990.2:p.Gly1638= |
| ENST00000262464.8:c.4914C>T | ENSP00000262464.4:p.Gly1638= |
| ENST00000508053.5:c.4914C>T | ENSP00000424571.1:p.Gly1638= |
| ENST00000619499.4:c.4911C>T | ENSP00000482132.1:p.Gly1637= |
| ENST00000703783.1:n.1698C>T | |
| ENST00000703785.1:n.1617C>T | |
| XM_017009228.2:c.4761C>T | XP_016864717.1:p.Gly1587= |