Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694645C>T , CM000681.2:g.694645C>T | GRCh38 |
| NC_000019.9:g.694645C>T , CM000681.1:g.694645C>T | GRCh37 |
| NC_000019.8:g.645645C>T | NCBI36 |
| NG_051189.1:g.5887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.233+169G>A MANE Select | ENSP00000327386.6:n.233+169G>A | |
| ENST00000329267.8:c.233+169G>A | ENSP00000327386.6:n.233+169G>A | |
| ENST00000613411.4:c.236+169G>A | ENSP00000482358.1:n.236+169G>A | |
| NM_001308209.1:c.233+169G>A | NP_001295138.1:n.233+169G>A | |
| NM_214710.3:c.236+169G>A | NP_999875.1:n.236+169G>A | |
| NM_214710.4:c.236+169G>A | NP_999875.1:n.236+169G>A | |
| NM_001308209.2:c.233+169G>A MANE Select | NP_001295138.2:n.233+169G>A | |
| NM_214710.5:c.236+169G>A | NP_999875.2:n.236+169G>A |