Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28319505A>C , CM000675.2:g.28319505A>C | GRCh38 |
| NC_000013.10:g.28893642A>C , CM000675.1:g.28893642A>C | GRCh37 |
| NC_000013.9:g.27791642A>C | NCBI36 |
| NG_012003.1:g.180624T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002019.4:c.3204T>G MANE Select | NP_002010.2:p.Pro1068= |
| ENST00000282397.9:c.3204T>G MANE Select | ENSP00000282397.4:p.Pro1068= |
| ENST00000282397.8:c.3204T>G | ENSP00000282397.4:p.Pro1068= |
| ENST00000540678.2:c.-556T>G | ENSP00000443311.2:n.-556T>G |
| ENST00000543394.2:c.273T>G | ENSP00000437841.1:p.Pro91= |
| ENST00000615611.4:c.489T>G | ENSP00000484385.1:p.Pro163= |
| ENST00000706527.1:n.1029T>G | |
| XM_017020485.1:c.3090T>G | XP_016875974.1:p.Pro1030= |
| XR_941798.1:n.917+5725A>C |