dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33716847C>A , CM000682.2:g.33716847C>A | GRCh38 |
| NC_000020.10:g.32304653C>A , CM000682.1:g.32304653C>A | GRCh37 |
| NC_000020.9:g.31768314C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409299.8:c.114-2111G>T MANE Select | ENSP00000386385.3:n.114-2111G>T | |
| ENST00000217398.3:c.114-2111G>T | ENSP00000217398.3:n.114-2111G>T | |
| ENST00000344022.7:c.114-2111G>T | ENSP00000343071.3:n.114-2111G>T | |
| ENST00000409299.7:c.114-2111G>T | ENSP00000386385.3:n.114-2111G>T | |
| NM_007238.4:c.114-2111G>T | NP_009169.3:n.114-2111G>T | |
| NM_183397.2:c.114-2111G>T | NP_899634.1:n.114-2111G>T | |
| NM_007238.5:c.114-2111G>T MANE Select | NP_009169.3:n.114-2111G>T | |
| NM_183397.3:c.114-2111G>T | NP_899634.1:n.114-2111G>T |