Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28319347T>C , CM000675.2:g.28319347T>C | GRCh38 |
| NC_000013.10:g.28893484T>C , CM000675.1:g.28893484T>C | GRCh37 |
| NC_000013.9:g.27791484T>C | NCBI36 |
| NG_012003.1:g.180782A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002019.4:c.3286+76A>G MANE Select | NP_002010.2:n.3286+76A>G |
| ENST00000282397.9:c.3286+76A>G MANE Select | ENSP00000282397.4:n.3286+76A>G |
| ENST00000282397.8:c.3286+76A>G | ENSP00000282397.4:n.3286+76A>G |
| ENST00000540678.2:c.-474+76A>G | ENSP00000443311.2:n.-474+76A>G |
| ENST00000543394.2:c.355+76A>G | ENSP00000437841.1:n.355+76A>G |
| ENST00000615611.4:c.571+76A>G | ENSP00000484385.1:n.571+76A>G |
| ENST00000706527.1:n.1111+76A>G | |
| XM_017020485.1:c.3172+76A>G | XP_016875974.1:n.3172+76A>G |
| XR_941798.1:n.917+5567T>C |