Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43930116G>T , CM000684.2:g.43930116G>T | GRCh38 |
| NC_000022.10:g.44325996G>T , CM000684.1:g.44325996G>T | GRCh37 |
| NC_000022.9:g.42657329G>T | NCBI36 |
| NG_008631.1:g.11378G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.486+1227G>T MANE Select | NP_079501.2:n.486+1227G>T |
| ENST00000216180.8:c.486+1227G>T MANE Select | ENSP00000216180.3:n.486+1227G>T |
| NM_025225.2:c.486+1227G>T | NP_079501.2:n.486+1227G>T |
| ENST00000216180.7:c.486+1227G>T | ENSP00000216180.3:n.486+1227G>T |
| ENST00000406117.6:c.*118+1227G>T | ENSP00000384668.2:n.*118+1227G>T |
| ENST00000423180.2:c.474+1227G>T | ENSP00000397987.2:n.474+1227G>T |
| ENST00000478713.1:n.520+1227G>T |