Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794190C>G , CM000671.2:g.77794190C>G | GRCh38 |
| NC_000009.11:g.80409106C>G , CM000671.1:g.80409106C>G | GRCh37 |
| NC_000009.10:g.79598926C>G | NCBI36 |
| NG_027904.2:g.242114G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.735+273G>C MANE Select | ENSP00000286548.4:n.735+273G>C | |
| ENST00000286548.8:c.735+273G>C | ENSP00000286548.4:n.735+273G>C | |
| NM_002072.4:c.735+273G>C | NP_002063.2:n.735+273G>C | |
| XM_017014628.2:c.561+273G>C | XP_016870117.1:n.561+273G>C | |
| NM_002072.5:c.735+273G>C MANE Select | NP_002063.2:n.735+273G>C |