dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17244016C>A , CM000681.2:g.17244016C>A | GRCh38 |
| NC_000019.9:g.17354825C>A , CM000681.1:g.17354825C>A | GRCh37 |
| NC_000019.8:g.17215825C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291442.4:c.278+927G>T MANE Select | ENSP00000291442.2:n.278+927G>T | |
| ENST00000291442.3:c.278+927G>T | ENSP00000291442.2:n.278+927G>T | |
| ENST00000594059.1:c.-82-3251G>T | ENSP00000473056.1:n.-82-3251G>T | |
| ENST00000596878.1:c.-83+217G>T | ENSP00000471686.1:n.-83+217G>T | |
| NM_005234.3:c.278+927G>T | NP_005225.2:n.278+927G>T | |
| NM_005234.4:c.278+927G>T MANE Select | NP_005225.2:n.278+927G>T |