Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232547C>A , CM000667.2:g.55232547C>A | GRCh38 |
| NC_000005.9:g.54528375C>A , CM000667.1:g.54528375C>A | GRCh37 |
| NC_000005.8:g.54564132C>A | NCBI36 |
| NG_034201.1:g.6171G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021147.5:c.382-1G>T MANE Select | NP_066970.3:n.382-1G>T |
| ENST00000282572.5:c.382-1G>T MANE Select | ENSP00000282572.4:n.382-1G>T |
| NM_021147.4:c.382-1G>T | NP_066970.3:n.382-1G>T |
| NR_125346.1:n.952-1G>T | |
| NR_125346.2:n.843-1G>T | |
| NR_125347.1:n.581-1G>T | |
| NR_125347.2:n.472-1G>T | |
| NR_125348.1:n.445G>T | |
| ENST00000282572.4:c.382-1G>T | ENSP00000282572.4:n.382-1G>T |
| ENST00000501463.2:c.*362-1G>T | ENSP00000422485.1:n.*362-1G>T |