gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81629785C>A , CM000679.2:g.81629785C>A | GRCh38 |
| NC_000017.10:g.79596811C>A , CM000679.1:g.79596811C>A | GRCh37 |
| NC_000017.9:g.77207216C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705719.1:c.165G>T | ENSP00000516165.1:p.Pro55= | |
| ENST00000331134.11:c.36G>T MANE Select | ENSP00000331487.5:p.Pro12= | |
| ENST00000331134.10:c.36G>T | ENSP00000331487.5:p.Pro12= | |
| ENST00000374747.9:c.36G>T | ENSP00000363879.5:p.Pro12= | |
| ENST00000570300.1:n.57G>T | ||
| ENST00000574897.5:c.36G>T | ENSP00000461543.1:p.Pro12= | |
| ENST00000625705.1:c.33G>T | ENSP00000486640.1:p.Pro11= | |
| NM_017921.3:c.36G>T | NP_060391.2:p.Pro12= | |
| XM_011524979.1:c.36G>T | XP_011523281.1:p.Pro12= | |
| XM_011524980.1:c.36G>T | XP_011523282.1:p.Pro12= | |
| XM_011524981.1:c.36G>T | XP_011523283.1:p.Pro12= | |
| XM_011524982.1:c.36G>T | XP_011523284.1:p.Pro12= | |
| XR_934501.1:n.254G>T | ||
| XR_934502.1:n.254G>T | ||
| XM_011524982.2:c.36G>T | XP_011523284.1:p.Pro12= | |
| XR_001752557.1:n.254G>T | ||
| NM_017921.4:c.36G>T MANE Select | NP_060391.2:p.Pro12= | |
| NM_001369698.1:c.36G>T | NP_001356627.1:p.Pro12= |