Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17335787G>A , CM000669.2:g.17335787G>A | GRCh38 |
| NC_000007.13:g.17375411G>A , CM000669.1:g.17375411G>A | GRCh37 |
| NC_000007.12:g.17341936G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001621.5:c.1160+1G>A MANE Select | NP_001612.1:n.1160+1G>A |
| ENST00000242057.9:c.1160+1G>A MANE Select | ENSP00000242057.4:n.1160+1G>A |
| NM_001621.4:c.1160+1G>A | NP_001612.1:n.1160+1G>A |
| ENST00000242057.8:c.1160+1G>A | ENSP00000242057.4:n.1160+1G>A |
| ENST00000463496.1:c.1160+1G>A | ENSP00000436466.1:n.1160+1G>A |
| ENST00000481944.1:n.230G>A | |
| ENST00000492120.1:n.142+1G>A | |
| ENST00000637807.1:c.1130+1G>A | ENSP00000490530.1:n.1130+1G>A |
| ENST00000642825.1:c.1115+1G>A | ENSP00000495987.1:n.1115+1G>A |