Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30579335C>A , CM000670.2:g.30579335C>A | GRCh38 |
| NC_000008.10:g.30436852C>A , CM000670.1:g.30436852C>A | GRCh37 |
| NC_000008.9:g.30556394C>A | NCBI36 |
| NG_052833.1:g.83907G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002095.6:c.760-298G>T MANE Select | NP_002086.1:n.760-298G>T |
| ENST00000355904.9:c.760-298G>T MANE Select | ENSP00000348168.4:n.760-298G>T |
| NM_002095.4:c.760-298G>T | NP_002086.1:n.760-298G>T |
| NM_002095.5:c.760-298G>T | NP_002086.1:n.760-298G>T |
| ENST00000355904.8:c.760-298G>T | ENSP00000348168.4:n.760-298G>T |
| XM_017013363.1:c.760-298G>T | XP_016868852.1:n.760-298G>T |
| XM_017013364.1:c.760-298G>T | XP_016868853.1:n.760-298G>T |
| XM_024447138.1:c.760-298G>T | XP_024302906.1:n.760-298G>T |