Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838271C>T , CM000664.2:g.182838271C>T | GRCh38 |
| NC_000002.11:g.183702999C>T , CM000664.1:g.183702999C>T | GRCh37 |
| NC_000002.10:g.183411244C>T | NCBI36 |
| NG_017197.1:g.33500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.797+138G>A MANE Select | ENSP00000295113.4:n.797+138G>A | |
| ENST00000295113.4:c.797+138G>A | ENSP00000295113.4:n.797+138G>A | |
| NM_001463.3:c.797+138G>A | NP_001454.2:n.797+138G>A | |
| NM_001463.4:c.797+138G>A MANE Select | NP_001454.2:n.797+138G>A |