Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246126T= , CM000674.2:g.65246126T= | GRCh38 |
| NC_000012.11:g.65639906T= , CM000674.1:g.65639906T= | GRCh37 |
| NC_000012.10:g.63926173T= | NCBI36 |
| NG_016210.1:g.81556T= | |
| NG_016210.2:g.81556T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2573-36T= MANE Select | ENSP00000308369.2:n.2573-36T= | |
| ENST00000308330.2:c.2573-36T= | ENSP00000308369.2:n.2573-36T= | |
| ENST00000539442.1:n.555-36T= | ||
| ENST00000544506.1:n.293-36T= | ||
| ENST00000545026.1:n.391-36T= | ||
| NM_001167614.1:c.2570-36T= | NP_001161086.1:n.2570-36T= | |
| NM_014319.4:c.2573-36T= | NP_055134.2:n.2573-36T= | |
| NM_014319.5:c.2573-36T= MANE Select | NP_055134.2:n.2573-36T= | |
| NM_001167614.2:c.2570-36T= | NP_001161086.1:n.2570-36T= |