Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300869G>T , CM000667.2:g.128300869G>T | GRCh38 |
| NC_000005.9:g.127636561G>T , CM000667.1:g.127636561G>T | GRCh37 |
| NC_000005.8:g.127664460G>T | NCBI36 |
| NG_008750.1:g.242175C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2898C>A | ||
| ENST00000703785.1:n.2817C>A | ||
| ENST00000262464.9:c.6114C>A MANE Select | ENSP00000262464.4:p.Ser2038= | |
| ENST00000262464.8:c.6114C>A | ENSP00000262464.4:p.Ser2038= | |
| ENST00000508053.5:c.6114C>A | ENSP00000424571.1:p.Ser2038= | |
| ENST00000619499.4:c.6111C>A | ENSP00000482132.1:p.Ser2037= | |
| NM_001999.3:c.6114C>A | NP_001990.2:p.Ser2038= | |
| XM_017009228.2:c.5961C>A | XP_016864717.1:p.Ser1987= | |
| NM_001999.4:c.6114C>A MANE Select | NP_001990.2:p.Ser2038= |