Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034541T>C , CM000672.2:g.104034541T>C | GRCh38 |
| NC_000010.10:g.105794299T>C , CM000672.1:g.105794299T>C | GRCh37 |
| NC_000010.9:g.105784289T>C | NCBI36 |
| NG_007069.1:g.56340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3520+80A>G | ENSP00000358748.3:n.3520+80A>G | |
| ENST00000648076.2:c.3766+80A>G MANE Select | ENSP00000497653.1:n.3766+80A>G | |
| ENST00000353479.9:c.3766+80A>G | ENSP00000340937.5:n.3766+80A>G | |
| ENST00000369733.7:c.3520+80A>G | ENSP00000358748.3:n.3520+80A>G | |
| NM_000494.3:c.3766+80A>G | NP_000485.3:n.3766+80A>G | |
| NM_000494.4:c.3766+80A>G MANE Select | NP_000485.3:n.3766+80A>G |