Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18139571A= , CM000668.2:g.18139571A= | GRCh38 |
| NC_000006.11:g.18139802A= , CM000668.1:g.18139802A= | GRCh37 |
| NC_000006.10:g.18247781A= | NCBI36 |
| NG_012137.2:g.20573T= | |
| NG_012137.3:g.20573T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000367.5:c.419+94T= MANE Select | NP_000358.1:n.419+94T= |
| ENST00000309983.5:c.419+94T= MANE Select | ENSP00000312304.4:n.419+94T= |
| NM_000367.3:c.419+94T= | NP_000358.1:n.419+94T= |
| NM_000367.4:c.419+94T= | NP_000358.1:n.419+94T= |
| NM_001346817.1:c.419+94T= | NP_001333746.1:n.419+94T= |
| NM_001346818.1:c.419+94T= | NP_001333747.1:n.419+94T= |
| ENST00000309983.4:c.419+94T= | ENSP00000312304.4:n.419+94T= |
| XM_011514839.1:c.419+94T= | XP_011513141.1:n.419+94T= |
| XM_011514840.1:c.350+94T= | XP_011513142.1:n.350+94T= |