Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394344G>T , CM000667.2:g.1394344G>T | GRCh38 |
| NC_000005.9:g.1394459G>T , CM000667.1:g.1394459G>T | GRCh37 |
| NC_000005.8:g.1447459G>T | NCBI36 |
| NG_015885.1:g.56085C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*391C>A MANE Select | ENSP00000270349.9:n.*391C>A | |
| ENST00000270349.11:c.*391C>A | ENSP00000270349.9:n.*391C>A | |
| ENST00000512002.2:n.635C>A | ||
| NM_001044.4:c.*391C>A | NP_001035.1:n.*391C>A | |
| NM_001044.5:c.*391C>A MANE Select | NP_001035.1:n.*391C>A |