Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143393T>C , CM000664.2:g.96143393T>C | GRCh38 |
| NC_000002.11:g.96809132T>C , CM000664.1:g.96809132T>C | GRCh37 |
| NC_000002.10:g.96172859T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*430A>G MANE Select | ENSP00000288943.4:n.*430A>G | |
| ENST00000288943.4:c.*430A>G | ENSP00000288943.4:n.*430A>G | |
| NM_004418.3:c.*430A>G | NP_004409.1:n.*430A>G | |
| XM_017003546.1:c.*430A>G | XP_016859035.1:n.*430A>G | |
| NM_004418.4:c.*430A>G MANE Select | NP_004409.1:n.*430A>G |