gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134228C>T , CM000669.2:g.40134228C>T | GRCh38 |
| NC_000007.13:g.40173827C>T , CM000669.1:g.40173827C>T | GRCh37 |
| NC_000007.12:g.40140352C>T | NCBI36 |
| NG_016989.2:g.5425G>A | |
| NG_023422.1:g.4253C>T | |
| NG_023422.2:g.4253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.339+1G>A MANE Select | ENSP00000304553.5:n.339+1G>A | |
| ENST00000306984.6:c.339+1G>A | ENSP00000304553.5:n.339+1G>A | |
| NM_138701.3:c.339+1G>A | NP_619646.1:n.339+1G>A | |
| NM_138701.4:c.339+1G>A MANE Select | NP_619646.1:n.339+1G>A |