Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259757C>T , CM000667.2:g.128259757C>T | GRCh38 |
| NC_000005.9:g.127595449C>T , CM000667.1:g.127595449C>T | GRCh37 |
| NC_000005.8:g.127623348C>T | NCBI36 |
| NG_008750.1:g.283287G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.8437G>A MANE Select | NP_001990.2:p.Gly2813Ser |
| ENST00000262464.9:c.8437G>A MANE Select | ENSP00000262464.4:p.Gly2813Ser |
| NM_001999.3:c.8437G>A | NP_001990.2:p.Gly2813Ser |
| ENST00000262464.8:c.8437G>A | ENSP00000262464.4:p.Gly2813Ser |
| ENST00000508053.5:c.8437G>A | ENSP00000424571.1:p.Gly2813Ser |
| ENST00000619499.4:c.8434G>A | ENSP00000482132.1:p.Gly2812Ser |
| XM_017009228.2:c.8284G>A | XP_016864717.1:p.Gly2762Ser |