Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259355T>G , CM000667.2:g.128259355T>G | GRCh38 |
| NC_000005.9:g.127595047T>G , CM000667.1:g.127595047T>G | GRCh37 |
| NC_000005.8:g.127622946T>G | NCBI36 |
| NG_008750.1:g.283689A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.*100A>C MANE Select | ENSP00000262464.4:n.*100A>C | |
| ENST00000262464.8:c.*100A>C | ENSP00000262464.4:n.*100A>C | |
| ENST00000508053.5:c.*100A>C | ENSP00000424571.1:n.*100A>C | |
| ENST00000619499.4:c.8836A>C | ENSP00000482132.1:n.8836A>C | |
| NM_001999.3:c.*100A>C | NP_001990.2:n.*100A>C | |
| XM_017009228.2:c.*100A>C | XP_016864717.1:n.*100A>C | |
| NM_001999.4:c.*100A>C MANE Select | NP_001990.2:n.*100A>C |