Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739644T>G , CM000670.2:g.86739644T>G | GRCh38 |
| NC_000008.10:g.87751872T>G , CM000670.1:g.87751872T>G | GRCh37 |
| NC_000008.9:g.87820988T>G | NCBI36 |
| NG_016980.1:g.9032A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+11A>C MANE Select | ENSP00000316605.5:n.211+11A>C | |
| ENST00000681746.1:c.211+11A>C | ENSP00000505959.1:n.211+11A>C | |
| ENST00000320005.5:c.211+11A>C | ENSP00000316605.5:n.211+11A>C | |
| ENST00000519777.1:n.193+11A>C | ||
| NM_019098.4:c.211+11A>C | NP_061971.3:n.211+11A>C | |
| NM_019098.5:c.211+11A>C MANE Select | NP_061971.3:n.211+11A>C |