Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145199C>G , CM000670.2:g.96145199C>G | GRCh38 |
| NC_000008.10:g.97157427C>G , CM000670.1:g.97157427C>G | GRCh37 |
| NC_000008.9:g.97226603C>G | NCBI36 |
| NG_008981.1:g.20594G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.732G>C MANE Select | NP_001001557.1:p.Glu244Asp |
| ENST00000287020.7:c.732G>C MANE Select | ENSP00000287020.4:p.Glu244Asp |
| NM_001001557.2:c.732G>C | NP_001001557.1:p.Glu244Asp |
| NM_001001557.3:c.732G>C | NP_001001557.1:p.Glu244Asp |
| ENST00000287020.6:c.732G>C | ENSP00000287020.4:p.Glu244Asp |
| ENST00000620978.1:c.706+26G>C | ENSP00000480170.1:n.706+26G>C |
| ENST00000621429.1:c.732G>C | ENSP00000483711.1:p.Glu244Asp |
| XM_011517030.1:c.333G>C | XP_011515332.1:p.Glu111Asp |