Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837615C>G , CM000685.2:g.154837615C>G | GRCh38 |
| NC_000023.10:g.154065890C>G , CM000685.1:g.154065890C>G | GRCh37 |
| NC_000023.9:g.153719084C>G | NCBI36 |
| NG_011403.1:g.190109G>C | |
| NG_033065.1:g.2048G>C | |
| NG_011403.2:g.190109G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7038G>C MANE Select | NP_000123.1:p.Glu2346Asp |
| ENST00000360256.9:c.7038G>C MANE Select | ENSP00000353393.4:p.Glu2346Asp |
| NM_000132.3:c.7038G>C | NP_000123.1:p.Glu2346Asp |
| NM_019863.2:c.633G>C | NP_063916.1:p.Glu211Asp |
| NM_019863.3:c.633G>C | NP_063916.1:p.Glu211Asp |
| ENST00000330287.10:c.633G>C | ENSP00000327895.6:p.Glu211Asp |
| ENST00000360256.8:c.7038G>C | ENSP00000353393.4:p.Glu2346Asp |
| ENST00000644698.1:c.771G>C | ENSP00000495706.1:p.Glu257Asp |
| XM_011531126.1:c.6933G>C | XP_011529428.1:p.Glu2311Asp |