Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104032661A>G , CM000672.2:g.104032661A>G | GRCh38 |
| NC_000010.10:g.105792419A>G , CM000672.1:g.105792419A>G | GRCh37 |
| NC_000010.9:g.105782409A>G | NCBI36 |
| NG_007069.1:g.58220T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.4438+13T>C MANE Select | NP_000485.3:n.4438+13T>C |
| ENST00000648076.2:c.4438+13T>C MANE Select | ENSP00000497653.1:n.4438+13T>C |
| NM_000494.3:c.4438+13T>C | NP_000485.3:n.4438+13T>C |
| ENST00000353479.9:c.4438+13T>C | ENSP00000340937.5:n.4438+13T>C |
| ENST00000369733.7:c.4192+13T>C | ENSP00000358748.3:n.4192+13T>C |
| ENST00000369733.8:c.4192+13T>C | ENSP00000358748.3:n.4192+13T>C |
| ENST00000433822.1:c.144+13T>C | |
| ENST00000647647.1:c.699+13T>C |