Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2865550T>C , CM000680.2:g.2865550T>C | GRCh38 |
| NC_000018.9:g.2865548T>C , CM000680.1:g.2865548T>C | GRCh37 |
| NC_000018.8:g.2855548T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254528.4:c.257+17619T>C MANE Select | ENSP00000254528.3:n.257+17619T>C | |
| ENST00000254528.3:c.257+17619T>C | ENSP00000254528.3:n.257+17619T>C | |
| NM_032048.2:c.257+17619T>C | NP_114437.2:n.257+17619T>C | |
| XM_011525747.1:c.380+17619T>C | XP_011524049.1:n.380+17619T>C | |
| XM_011525748.1:c.380+17619T>C | XP_011524050.1:n.380+17619T>C | |
| XR_935070.1:n.699+17619T>C | ||
| XM_017026038.2:c.257+17619T>C | XP_016881527.1:n.257+17619T>C | |
| NM_032048.3:c.257+17619T>C MANE Select | NP_114437.2:n.257+17619T>C |