Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187048C= , CM000681.2:g.15187048C= | GRCh38 |
| NC_000019.9:g.15297859C= , CM000681.1:g.15297859C= | GRCh37 |
| NC_000019.8:g.15158859C= | NCBI36 |
| NG_009819.1:g.18934G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1840+57G= MANE Select | ENSP00000263388.1:n.1840+57G= | |
| ENST00000263388.6:c.1840+57G= | ENSP00000263388.1:n.1840+57G= | |
| ENST00000601011.1:c.1837+57G= | ENSP00000473138.1:n.1837+57G= | |
| NM_000435.2:c.1840+57G= | NP_000426.2:n.1840+57G= | |
| XM_005259924.3:c.1840+57G= | XP_005259981.1:n.1840+57G= | |
| XM_005259924.4:c.1840+57G= | XP_005259981.1:n.1840+57G= | |
| NM_000435.3:c.1840+57G= MANE Select | NP_000426.2:n.1840+57G= |