Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128393165C>G , CM000667.2:g.128393165C>G | GRCh38 |
| NC_000005.9:g.127728858C>G , CM000667.1:g.127728858C>G | GRCh37 |
| NC_000005.8:g.127756757C>G | NCBI36 |
| NG_008750.1:g.149878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.1142G>C | ||
| ENST00000262464.9:c.1435G>C MANE Select | ENSP00000262464.4:p.Gly479Arg | |
| ENST00000262464.8:c.1435G>C | ENSP00000262464.4:p.Gly479Arg | |
| ENST00000508053.5:c.1435G>C | ENSP00000424571.1:p.Gly479Arg | |
| ENST00000508989.5:c.1336G>C | ENSP00000425596.1:p.Gly446Arg | |
| ENST00000619499.4:c.1432G>C | ENSP00000482132.1:p.Gly478Arg | |
| NM_001999.3:c.1435G>C | NP_001990.2:p.Gly479Arg | |
| XM_017009228.2:c.1282G>C | XP_016864717.1:p.Gly428Arg | |
| NM_001999.4:c.1435G>C MANE Select | NP_001990.2:p.Gly479Arg |