Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104052972G= , CM000672.2:g.104052972G= | GRCh38 |
| NC_000010.10:g.105812730G= , CM000672.1:g.105812730G= | GRCh37 |
| NC_000010.9:g.105802720G= | NCBI36 |
| NG_007069.1:g.37909C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.1939+59C= | ENSP00000358748.3:n.1939+59C= | |
| ENST00000648076.2:c.1939+59C= MANE Select | ENSP00000497653.1:n.1939+59C= | |
| ENST00000353479.9:c.1939+59C= | ENSP00000340937.5:n.1939+59C= | |
| ENST00000369733.7:c.1939+59C= | ENSP00000358748.3:n.1939+59C= | |
| NM_000494.3:c.1939+59C= | NP_000485.3:n.1939+59C= | |
| NM_000494.4:c.1939+59C= MANE Select | NP_000485.3:n.1939+59C= |