Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648933T>C , CM000669.2:g.152648933T>C | GRCh38 |
| NC_000007.13:g.152346018T>C , CM000669.1:g.152346018T>C | GRCh37 |
| NC_000007.12:g.151976951T>C | NCBI36 |
| NG_027988.1:g.32233A>G | |
| NG_027988.2:g.32233A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.384A>G | ENSP00000513758.1:p.Val128= | |
| ENST00000359321.2:c.552A>G MANE Select | ENSP00000352271.1:p.Val184= | |
| ENST00000359321.1:c.552A>G | ENSP00000352271.1:p.Val184= | |
| ENST00000495707.1:n.574A>G | ||
| NM_005431.1:c.552A>G | NP_005422.1:p.Val184= | |
| NM_005431.2:c.552A>G MANE Select | NP_005422.1:p.Val184= |