Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694765A>G , CM000681.2:g.694765A>G | GRCh38 |
| NC_000019.9:g.694765A>G , CM000681.1:g.694765A>G | GRCh37 |
| NC_000019.8:g.645765A>G | NCBI36 |
| NG_051189.1:g.5767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.233+49T>C MANE Select | ENSP00000327386.6:n.233+49T>C | |
| ENST00000329267.8:c.233+49T>C | ENSP00000327386.6:n.233+49T>C | |
| ENST00000613411.4:c.236+49T>C | ENSP00000482358.1:n.236+49T>C | |
| NM_001308209.1:c.233+49T>C | NP_001295138.1:n.233+49T>C | |
| NM_214710.3:c.236+49T>C | NP_999875.1:n.236+49T>C | |
| NM_214710.4:c.236+49T>C | NP_999875.1:n.236+49T>C | |
| NM_001308209.2:c.233+49T>C MANE Select | NP_001295138.2:n.233+49T>C | |
| NM_214710.5:c.236+49T>C | NP_999875.2:n.236+49T>C |