Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58499507T>G , CM000670.2:g.58499507T>G | GRCh38 |
| NC_000008.10:g.59412066T>G , CM000670.1:g.59412066T>G | GRCh37 |
| NC_000008.9:g.59574620T>G | NCBI36 |
| NG_007969.1:g.5656A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000780.4:c.80+512A>C MANE Select | NP_000771.2:n.80+512A>C |
| ENST00000301645.4:c.80+512A>C MANE Select | ENSP00000301645.3:n.80+512A>C |
| NM_000780.3:c.80+512A>C | NP_000771.2:n.80+512A>C |
| ENST00000301645.3:c.80+512A>C | ENSP00000301645.3:n.80+512A>C |
| XM_011517476.1:c.80+512A>C | XP_011515778.1:n.80+512A>C |