gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186672065C>A , CM000663.2:g.186672065C>A | GRCh38 |
| NC_000001.10:g.186641197C>A , CM000663.1:g.186641197C>A | GRCh37 |
| NC_000001.9:g.184907820C>A | NCBI36 |
| NG_028206.2:g.13363G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*2288G>T MANE Select | ENSP00000356438.5:n.*2288G>T | |
| ENST00000680451.1:c.*2288G>T | ENSP00000506242.1:n.*2288G>T | |
| ENST00000681605.1:c.*3775G>T | ENSP00000504900.1:n.*3775G>T | |
| ENST00000367468.9:c.*2288G>T | ENSP00000356438.5:n.*2288G>T | |
| NM_000963.3:c.*2288G>T | NP_000954.1:n.*2288G>T | |
| NM_000963.4:c.*2288G>T MANE Select | NP_000954.1:n.*2288G>T |