Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149576303C>T , CM000664.2:g.149576303C>T | GRCh38 |
| NC_000002.11:g.150432817C>T , CM000664.1:g.150432817C>T | GRCh37 |
| NC_000002.10:g.150141063C>T | NCBI36 |
| NG_009189.1:g.16514G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.478+134G>A MANE Select | NP_056517.1:n.478+134G>A |
| ENST00000303319.10:c.478+134G>A MANE Select | ENSP00000301920.5:n.478+134G>A |
| NM_015702.2:c.478+134G>A | NP_056517.1:n.478+134G>A |
| ENST00000303319.9:c.478+134G>A | ENSP00000301920.5:n.478+134G>A |
| ENST00000422782.2:c.478+134G>A | ENSP00000408331.2:n.478+134G>A |
| ENST00000428879.5:c.478+134G>A | ENSP00000389060.1:n.478+134G>A |