Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6072290C>T , CM000674.2:g.6072290C>T | GRCh38 |
| NC_000012.11:g.6181456C>T , CM000674.1:g.6181456C>T | GRCh37 |
| NC_000012.10:g.6051717C>T | NCBI36 |
| NG_009072.1:g.57381G>A | |
| NG_009072.2:g.57381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1109+41G>A MANE Select | ENSP00000261405.5:n.1109+41G>A | |
| ENST00000261405.9:c.1109+41G>A | ENSP00000261405.5:n.1109+41G>A | |
| ENST00000538635.5:n.420+38225G>A | ||
| NM_000552.3:c.1109+41G>A | NP_000543.2:n.1109+41G>A | |
| NM_000552.4:c.1109+41G>A | NP_000543.2:n.1109+41G>A | |
| NM_000552.5:c.1109+41G>A MANE Select | NP_000543.3:n.1109+41G>A |