Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660661A>G , CM000669.2:g.152660661A>G | GRCh38 |
| NC_000007.13:g.152357746A>G , CM000669.1:g.152357746A>G | GRCh37 |
| NC_000007.12:g.151988679A>G | NCBI36 |
| NG_027988.1:g.20505T>C | |
| NG_027988.2:g.20505T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11298T>C | ENSP00000513758.1:n.-47-11298T>C | |
| ENST00000698507.1:n.229T>C | ||
| ENST00000359321.2:c.121+40T>C MANE Select | ENSP00000352271.1:n.121+40T>C | |
| ENST00000359321.1:c.121+40T>C | ENSP00000352271.1:n.121+40T>C | |
| ENST00000495707.1:n.143+40T>C | ||
| NM_005431.1:c.121+40T>C | NP_005422.1:n.121+40T>C | |
| NM_005431.2:c.121+40T>C MANE Select | NP_005422.1:n.121+40T>C |