gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14136783T>G , CM000668.2:g.14136783T>G | GRCh38 |
| NC_000006.11:g.14137014T>G , CM000668.1:g.14137014T>G | GRCh37 |
| NC_000006.10:g.14244993T>G | NCBI36 |
| NG_030372.1:g.24528T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379153.4:c.*1547T>G MANE Select | ENSP00000368450.3:n.*1547T>G | |
| ENST00000379153.3:c.*1547T>G | ENSP00000368450.3:n.*1547T>G | |
| ENST00000612003.4:c.*1547T>G | ENSP00000480760.1:n.*1547T>G | |
| NM_001040280.1:c.*1547T>G | NP_001035370.1:n.*1547T>G | |
| NM_001251901.1:c.*1547T>G | NP_001238830.1:n.*1547T>G | |
| NM_004233.3:c.*1547T>G | NP_004224.1:n.*1547T>G | |
| NM_004233.4:c.*1547T>G MANE Select | NP_004224.1:n.*1547T>G | |
| NM_001040280.2:c.*1547T>G | NP_001035370.1:n.*1547T>G | |
| NM_001040280.3:c.*1547T>G | NP_001035370.1:n.*1547T>G |