Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186672715A>G , CM000663.2:g.186672715A>G | GRCh38 |
| NC_000001.10:g.186641847A>G , CM000663.1:g.186641847A>G | GRCh37 |
| NC_000001.9:g.184908470A>G | NCBI36 |
| NG_028206.2:g.12713T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367468.10:c.*1638T>C MANE Select | ENSP00000356438.5:n.*1638T>C | |
| ENST00000680451.1:c.*1638T>C | ENSP00000506242.1:n.*1638T>C | |
| ENST00000681605.1:c.*3125T>C | ENSP00000504900.1:n.*3125T>C | |
| ENST00000367468.9:c.*1638T>C | ENSP00000356438.5:n.*1638T>C | |
| NM_000963.3:c.*1638T>C | NP_000954.1:n.*1638T>C | |
| NM_000963.4:c.*1638T>C MANE Select | NP_000954.1:n.*1638T>C |