Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461798T>G , CM000667.2:g.45461798T>G | GRCh38 |
| NC_000005.9:g.45461900T>G , CM000667.1:g.45461900T>G | GRCh37 |
| NC_000005.8:g.45497657T>G | NCBI36 |
| NG_042183.1:g.239321A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.1011+48A>C MANE Select | ENSP00000307342.4:n.1011+48A>C | |
| ENST00000637305.1:n.174+48A>C | ||
| ENST00000673735.1:c.1011+48A>C | ENSP00000501107.1:n.1011+48A>C | |
| ENST00000303230.5:c.1011+48A>C | ENSP00000307342.4:n.1011+48A>C | |
| NM_021072.3:c.1011+48A>C | NP_066550.2:n.1011+48A>C | |
| NM_021072.4:c.1011+48A>C MANE Select | NP_066550.2:n.1011+48A>C |