Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104037828C>G , CM000672.2:g.104037828C>G | GRCh38 |
| NC_000010.10:g.105797586C>G , CM000672.1:g.105797586C>G | GRCh37 |
| NC_000010.9:g.105787576C>G | NCBI36 |
| NG_007069.1:g.53053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.2936-55G>C | ENSP00000358748.3:n.2936-55G>C | |
| ENST00000648076.2:c.3071-55G>C MANE Select | ENSP00000497653.1:n.3071-55G>C | |
| ENST00000353479.9:c.3071-55G>C | ENSP00000340937.5:n.3071-55G>C | |
| ENST00000369733.7:c.2936-55G>C | ENSP00000358748.3:n.2936-55G>C | |
| NM_000494.3:c.3071-55G>C | NP_000485.3:n.3071-55G>C | |
| NM_000494.4:c.3071-55G>C MANE Select | NP_000485.3:n.3071-55G>C |