gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86743617G>T , CM000670.2:g.86743617G>T | GRCh38 |
| NC_000008.10:g.87755845G>T , CM000670.1:g.87755845G>T | GRCh37 |
| NC_000008.9:g.87824961G>T | NCBI36 |
| NG_016980.1:g.5059C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.11C>A MANE Select | ENSP00000316605.5:p.Ser4Ter | |
| ENST00000681746.1:c.11C>A | ENSP00000505959.1:p.Ser4Ter | |
| ENST00000320005.5:c.11C>A | ENSP00000316605.5:p.Ser4Ter | |
| NM_019098.4:c.11C>A | NP_061971.3:p.Ser4Ter | |
| NM_019098.5:c.11C>A MANE Select | NP_061971.3:p.Ser4Ter |