Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152655183A>C , CM000669.2:g.152655183A>C | GRCh38 |
| NC_000007.13:g.152352268A>C , CM000669.1:g.152352268A>C | GRCh37 |
| NC_000007.12:g.151983201A>C | NCBI36 |
| NG_027988.1:g.25983T>G | |
| NG_027988.2:g.25983T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.121+5518T>G MANE Select | NP_005422.1:n.121+5518T>G |
| ENST00000359321.2:c.121+5518T>G MANE Select | ENSP00000352271.1:n.121+5518T>G |
| NM_005431.1:c.121+5518T>G | NP_005422.1:n.121+5518T>G |
| ENST00000359321.1:c.121+5518T>G | ENSP00000352271.1:n.121+5518T>G |
| ENST00000495707.1:n.143+5518T>G | |
| ENST00000698506.1:c.-47-5820T>G | ENSP00000513758.1:n.-47-5820T>G |