Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7943508C>G , CM000681.2:g.7943508C>G | GRCh38 |
| NC_000019.9:g.8008393C>G , CM000681.1:g.8008393C>G | GRCh37 |
| NC_000019.8:g.7914393C>G | NCBI36 |
| NG_051180.1:g.5316G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.45+99G>C MANE Select | ENSP00000270538.2:n.45+99G>C | |
| ENST00000270538.7:c.45+99G>C | ENSP00000270538.2:n.45+99G>C | |
| ENST00000595831.5:c.29+99G>C | ||
| ENST00000595876.5:c.45+99G>C | ENSP00000471596.1:n.45+99G>C | |
| ENST00000597926.1:c.45+99G>C | ENSP00000469389.1:n.45+99G>C | |
| ENST00000600000.1:n.60+99G>C | ||
| ENST00000600748.5:n.30+99G>C | ||
| NM_006351.3:c.45+99G>C | NP_006342.2:n.45+99G>C | |
| NM_006351.4:c.45+99G>C MANE Select | NP_006342.2:n.45+99G>C |