Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58494325T>C , CM000670.2:g.58494325T>C | GRCh38 |
| NC_000008.10:g.59406884T>C , CM000670.1:g.59406884T>C | GRCh37 |
| NC_000008.9:g.59569438T>C | NCBI36 |
| NG_007969.1:g.10838A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000780.4:c.1039+181A>G MANE Select | NP_000771.2:n.1039+181A>G |
| ENST00000301645.4:c.1039+181A>G MANE Select | ENSP00000301645.3:n.1039+181A>G |
| NM_000780.3:c.1039+181A>G | NP_000771.2:n.1039+181A>G |
| ENST00000301645.3:c.1039+181A>G | ENSP00000301645.3:n.1039+181A>G |
| XM_011517476.1:c.1039+181A>G | XP_011515778.1:n.1039+181A>G |