Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232941C>T , CM000667.2:g.55232941C>T | GRCh38 |
| NC_000005.9:g.54528769C>T , CM000667.1:g.54528769C>T | GRCh37 |
| NC_000005.8:g.54564526C>T | NCBI36 |
| NG_034201.1:g.5777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+202G>A MANE Select | ENSP00000282572.4:n.381+202G>A | |
| ENST00000282572.4:c.381+202G>A | ENSP00000282572.4:n.381+202G>A | |
| ENST00000501463.2:c.*187G>A | ENSP00000422485.1:n.*187G>A | |
| NM_021147.4:c.381+202G>A | NP_066970.3:n.381+202G>A | |
| NR_125346.1:n.777G>A | ||
| NR_125347.1:n.580+197G>A | ||
| NR_125348.1:n.51G>A | ||
| NM_021147.5:c.381+202G>A MANE Select | NP_066970.3:n.381+202G>A | |
| NR_125346.2:n.668G>A | ||
| NR_125347.2:n.471+197G>A |