Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233043C>G , CM000667.2:g.55233043C>G | GRCh38 |
| NC_000005.9:g.54528871C>G , CM000667.1:g.54528871C>G | GRCh37 |
| NC_000005.8:g.54564628C>G | NCBI36 |
| NG_034201.1:g.5675G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+100G>C MANE Select | ENSP00000282572.4:n.381+100G>C | |
| ENST00000282572.4:c.381+100G>C | ENSP00000282572.4:n.381+100G>C | |
| ENST00000501463.2:c.*85G>C | ENSP00000422485.1:n.*85G>C | |
| NM_021147.4:c.381+100G>C | NP_066970.3:n.381+100G>C | |
| NR_125346.1:n.675G>C | ||
| NR_125347.1:n.580+95G>C | ||
| NM_021147.5:c.381+100G>C MANE Select | NP_066970.3:n.381+100G>C | |
| NR_125346.2:n.566G>C | ||
| NR_125347.2:n.471+95G>C |