Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3963466C>G , CM000678.2:g.3963466C>G | GRCh38 |
| NC_000016.9:g.4013467C>G , CM000678.1:g.4013467C>G | GRCh37 |
| NC_000016.8:g.3953468C>G | NCBI36 |
| NG_011434.1:g.157720G>C | |
| NG_011434.2:g.157720G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001116.4:c.*2309G>C MANE Select | NP_001107.2:n.*2309G>C |
| ENST00000294016.8:c.*2309G>C MANE Select | ENSP00000294016.3:n.*2309G>C |
| NM_001116.3:c.*2309G>C | NP_001107.2:n.*2309G>C |
| ENST00000294016.7:c.*2309G>C | ENSP00000294016.3:n.*2309G>C |
| ENST00000576936.5:c.568-9950G>C | |
| XM_005255079.2:c.*2309G>C | XP_005255136.1:n.*2309G>C |
| XM_005255079.3:c.*2309G>C | XP_005255136.1:n.*2309G>C |
| XM_011522353.1:c.2928-9950G>C | XP_011520655.1:n.2928-9950G>C |
| XM_011522353.2:c.2928-9950G>C | XP_011520655.1:n.2928-9950G>C |