Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128345561A>G , CM000667.2:g.128345561A>G | GRCh38 |
| NC_000005.9:g.127681253A>G , CM000667.1:g.127681253A>G | GRCh37 |
| NC_000005.8:g.127709152A>G | NCBI36 |
| NG_008750.1:g.197483T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.3013T>C MANE Select | NP_001990.2:p.Leu1005= |
| ENST00000262464.9:c.3013T>C MANE Select | ENSP00000262464.4:p.Leu1005= |
| NM_001999.3:c.3013T>C | NP_001990.2:p.Leu1005= |
| ENST00000262464.8:c.3013T>C | ENSP00000262464.4:p.Leu1005= |
| ENST00000508053.5:c.3013T>C | ENSP00000424571.1:p.Leu1005= |
| ENST00000508989.5:c.2914T>C | ENSP00000425596.1:p.Leu972= |
| ENST00000619499.4:c.3010T>C | ENSP00000482132.1:p.Leu1004= |
| XM_017009228.2:c.2860T>C | XP_016864717.1:p.Leu954= |