Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660643T>C , CM000669.2:g.152660643T>C | GRCh38 |
| NC_000007.13:g.152357728T>C , CM000669.1:g.152357728T>C | GRCh37 |
| NC_000007.12:g.151988661T>C | NCBI36 |
| NG_027988.1:g.20523A>G | |
| NG_027988.2:g.20523A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11280A>G | ENSP00000513758.1:n.-47-11280A>G | |
| ENST00000698507.1:n.247A>G | ||
| ENST00000359321.2:c.121+58A>G MANE Select | ENSP00000352271.1:n.121+58A>G | |
| ENST00000359321.1:c.121+58A>G | ENSP00000352271.1:n.121+58A>G | |
| ENST00000495707.1:n.143+58A>G | ||
| NM_005431.1:c.121+58A>G | NP_005422.1:n.121+58A>G | |
| NM_005431.2:c.121+58A>G MANE Select | NP_005422.1:n.121+58A>G |