Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149587072A>T , CM000664.2:g.149587072A>T | GRCh38 |
| NC_000002.11:g.150443586A>T , CM000664.1:g.150443586A>T | GRCh37 |
| NC_000002.10:g.150151832A>T | NCBI36 |
| NG_009189.1:g.5745T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.9+17T>A MANE Select | NP_056517.1:n.9+17T>A |
| ENST00000303319.10:c.9+17T>A MANE Select | ENSP00000301920.5:n.9+17T>A |
| NM_015702.2:c.9+17T>A | NP_056517.1:n.9+17T>A |
| ENST00000303319.9:c.9+17T>A | ENSP00000301920.5:n.9+17T>A |
| ENST00000422782.2:c.9+17T>A | ENSP00000408331.2:n.9+17T>A |
| ENST00000428879.5:c.9+17T>A | ENSP00000389060.1:n.9+17T>A |
| ENST00000460311.1:n.141T>A |