Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129502T>C , CM000672.2:g.43129502T>C | GRCh38 |
| NC_000010.10:g.43624950T>C , CM000672.1:g.43624950T>C | GRCh37 |
| NC_000010.9:g.42944956T>C | NCBI36 |
| NG_007489.1:g.57434T>C , LRG_518:g.57434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2748T>C | ENSP00000480088.2:n.*2748T>C | |
| ENST00000683007.1:n.5541T>C | ||
| ENST00000355710.8:c.*1233T>C MANE Select | ENSP00000347942.3:n.*1233T>C | |
| ENST00000355710.7:c.*1233T>C | ENSP00000347942.3:n.*1233T>C | |
| ENST00000615310.4:c.*1927T>C | ENSP00000480088.1:n.*1927T>C | |
| NM_020975.4:c.*1233T>C , LRG_518t1:c.*1233T>C | NP_066124.1:n.*1233T>C | |
| XM_011540027.1:c.*17-16T>C | XP_011538329.1:n.*17-16T>C | |
| NM_020975.5:c.*1233T>C | NP_066124.1:n.*1233T>C | |
| NM_020975.6:c.*1233T>C MANE Select | NP_066124.1:n.*1233T>C |