Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233000C>G , CM000667.2:g.55233000C>G | GRCh38 |
| NC_000005.9:g.54528828C>G , CM000667.1:g.54528828C>G | GRCh37 |
| NC_000005.8:g.54564585C>G | NCBI36 |
| NG_034201.1:g.5718G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+143G>C MANE Select | ENSP00000282572.4:n.381+143G>C | |
| ENST00000282572.4:c.381+143G>C | ENSP00000282572.4:n.381+143G>C | |
| ENST00000501463.2:c.*128G>C | ENSP00000422485.1:n.*128G>C | |
| NM_021147.4:c.381+143G>C | NP_066970.3:n.381+143G>C | |
| NR_125346.1:n.718G>C | ||
| NR_125347.1:n.580+138G>C | ||
| NM_021147.5:c.381+143G>C MANE Select | NP_066970.3:n.381+143G>C | |
| NR_125346.2:n.609G>C | ||
| NR_125347.2:n.471+138G>C |