gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044282C>A , CM000672.2:g.114044282C>A | GRCh38 |
| NC_000010.10:g.115804041C>A , CM000672.1:g.115804041C>A | GRCh37 |
| NC_000010.9:g.115794031C>A | NCBI36 |
| NG_012187.1:g.5236C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.150C>A MANE Select | ENSP00000358301.2:p.Pro50= | |
| ENST00000369295.3:c.150C>A | ENSP00000358301.2:p.Pro50= | |
| NM_000684.2:c.150C>A | NP_000675.1:p.Pro50= | |
| NM_000684.3:c.150C>A MANE Select | NP_000675.1:p.Pro50= |