Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680356C>G , CM000663.2:g.186680356C>G | GRCh38 |
| NC_000001.10:g.186649488C>G , CM000663.1:g.186649488C>G | GRCh37 |
| NC_000001.9:g.184916111C>G | NCBI36 |
| NG_028206.2:g.5072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.-66G>C MANE Select | ENSP00000356438.5:n.-66G>C | |
| ENST00000680451.1:c.-66G>C | ENSP00000506242.1:n.-66G>C | |
| ENST00000681605.1:c.-66G>C | ENSP00000504900.1:n.-66G>C | |
| ENST00000367468.9:c.-66G>C | ENSP00000356438.5:n.-66G>C | |
| ENST00000490885.6:n.68G>C | ||
| ENST00000559800.1:n.68G>C | ||
| NM_000963.3:c.-66G>C | NP_000954.1:n.-66G>C | |
| NM_000963.4:c.-66G>C MANE Select | NP_000954.1:n.-66G>C |