Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149582301G>A , CM000664.2:g.149582301G>A | GRCh38 |
| NC_000002.11:g.150438815G>A , CM000664.1:g.150438815G>A | GRCh37 |
| NC_000002.10:g.150147061G>A | NCBI36 |
| NG_009189.1:g.10516C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.10-30C>T MANE Select | NP_056517.1:n.10-30C>T |
| ENST00000303319.10:c.10-30C>T MANE Select | ENSP00000301920.5:n.10-30C>T |
| NM_015702.2:c.10-30C>T | NP_056517.1:n.10-30C>T |
| ENST00000303319.9:c.10-30C>T | ENSP00000301920.5:n.10-30C>T |
| ENST00000422782.2:c.10-30C>T | ENSP00000408331.2:n.10-30C>T |
| ENST00000428879.5:c.10-30C>T | ENSP00000389060.1:n.10-30C>T |