Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139166662A>G , CM000668.2:g.139166662A>G | GRCh38 |
| NC_000006.11:g.139487799A>G , CM000668.1:g.139487799A>G | GRCh37 |
| NC_000006.10:g.139529492A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016217.3:c.650A>G (HECA) MANE Select | NP_057301.1:p.Glu217Gly |
| ENST00000367658.3:c.650A>G (HECA) MANE Select | ENSP00000356630.2:p.Glu217Gly |
| NM_016217.2:c.650A>G (HECA) | NP_057301.1:p.Glu217Gly |
| ENST00000367658.2:c.650A>G (HECA) | ENSP00000356630.2:p.Glu217Gly |
| XR_942317.1:n.1789+3738T>C (TXLNB) | |
| XR_942317.3:n.1846+3738T>C (TXLNB) |