Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8540021C>T , CM000685.2:g.8540021C>T | GRCh38 |
| NC_000023.10:g.8508062C>T , CM000685.1:g.8508062C>T | GRCh37 |
| NC_000023.9:g.8468062C>T | NCBI36 |
| NG_007088.1:g.197166G>A | |
| NG_007088.2:g.197166G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1355-263G>A MANE Select | NP_000207.2:n.1355-263G>A |
| ENST00000262648.8:c.1355-263G>A MANE Select | ENSP00000262648.3:n.1355-263G>A |
| NM_000216.2:c.1355-263G>A | NP_000207.2:n.1355-263G>A |
| NM_000216.3:c.1355-263G>A | NP_000207.2:n.1355-263G>A |
| ENST00000262648.7:c.1355-263G>A | ENSP00000262648.3:n.1355-263G>A |
| ENST00000619786.1:c.1352-263G>A | ENSP00000478734.1:n.1352-263G>A |