Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274969C>G , CM000672.2:g.80274969C>G | GRCh38 |
| NC_000010.10:g.82034725C>G , CM000672.1:g.82034725C>G | GRCh37 |
| NC_000010.9:g.82024705C>G | NCBI36 |
| NG_008083.1:g.19710G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.951+48G>C MANE Select | ENSP00000361287.3:n.951+48G>C | |
| ENST00000372213.7:c.951+48G>C | ENSP00000361287.3:n.951+48G>C | |
| ENST00000480845.1:n.183+48G>C | ||
| ENST00000485270.5:n.463+48G>C | ||
| NM_000429.2:c.951+48G>C | NP_000420.1:n.951+48G>C | |
| XM_005269842.3:c.951+48G>C | XP_005269899.1:n.951+48G>C | |
| XM_005269843.3:c.828+48G>C | XP_005269900.1:n.828+48G>C | |
| NM_000429.3:c.951+48G>C MANE Select | NP_000420.1:n.951+48G>C |