Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26625624T>C , CM000684.2:g.26625624T>C | GRCh38 |
| NC_000022.10:g.27021588T>C , CM000684.1:g.27021588T>C | GRCh37 |
| NC_000022.9:g.25351588T>C | NCBI36 |
| NG_009825.1:g.8661T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.300+2T>C MANE Select | NP_001877.1:n.300+2T>C |
| ENST00000354760.4:c.300+2T>C MANE Select | ENSP00000346805.3:n.300+2T>C |
| NM_001886.2:c.300+2T>C | NP_001877.1:n.300+2T>C |
| ENST00000354760.3:c.300+2T>C | ENSP00000346805.3:n.300+2T>C |
| ENST00000466315.1:n.197+2T>C | |
| XM_006724140.2:c.315+2T>C | XP_006724203.1:n.315+2T>C |
| XM_006724140.3:c.315+2T>C | XP_006724203.1:n.315+2T>C |
| XM_011529898.1:c.414+2T>C | XP_011528200.1:n.414+2T>C |
| XM_017028598.1:c.333+2T>C | XP_016884087.1:n.333+2T>C |