gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24347807A>G , CM000668.2:g.24347807A>G | GRCh38 |
| NC_000006.11:g.24348035A>G , CM000668.1:g.24348035A>G | GRCh37 |
| NC_000006.10:g.24456014A>G | NCBI36 |
| NG_012829.1:g.15246T>C | |
| NG_012829.2:g.40486T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.348+5762T>C MANE Select | ENSP00000367715.3:n.348+5762T>C | |
| ENST00000378454.7:c.348+5762T>C | ENSP00000367715.3:n.348+5762T>C | |
| NM_001195610.1:c.348+5762T>C | NP_001182539.1:n.348+5762T>C | |
| NM_016356.4:c.348+5762T>C | NP_057440.2:n.348+5762T>C | |
| NM_016356.5:c.348+5762T>C MANE Select | NP_057440.2:n.348+5762T>C | |
| NM_001195610.2:c.348+5762T>C | NP_001182539.1:n.348+5762T>C |