gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87984526T>A , CM000676.2:g.87984526T>A | GRCh38 |
| NC_000014.8:g.88450870T>A , CM000676.1:g.88450870T>A | GRCh37 |
| NC_000014.7:g.87520623T>A | NCBI36 |
| NG_011853.2:g.14038A>T | |
| NG_011853.3:g.14038A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.450A>T MANE Select | ENSP00000261304.2:p.Pro150= | |
| ENST00000261304.6:c.450A>T | ENSP00000261304.2:p.Pro150= | |
| ENST00000393568.8:c.381A>T | ENSP00000377198.4:p.Pro127= | |
| ENST00000393569.6:c.372A>T | ENSP00000377199.2:p.Pro124= | |
| ENST00000474294.6:n.440A>T | ||
| ENST00000544807.6:c.282A>T | ENSP00000437513.2:p.Pro94= | |
| ENST00000554372.5:c.*199A>T | ENSP00000451884.1:n.*199A>T | |
| ENST00000554916.5:n.329A>T | ||
| ENST00000556261.5:n.151A>T | ||
| ENST00000556879.5:c.510A>T | ENSP00000452208.1:n.510A>T | |
| ENST00000557316.5:c.450A>T | ENSP00000452314.1:p.Pro150= | |
| ENST00000622264.4:c.440A>T | ||
| NM_000153.3:c.450A>T | NP_000144.2:p.Pro150= | |
| NM_001201401.1:c.381A>T | NP_001188330.1:p.Pro127= | |
| NM_001201402.1:c.372A>T | NP_001188331.1:p.Pro124= | |
| XM_011536618.1:c.282A>T | XP_011534920.1:p.Pro94= | |
| XM_011536618.2:c.282A>T | XP_011534920.1:p.Pro94= | |
| NM_000153.4:c.450A>T MANE Select | NP_000144.2:p.Pro150= | |
| NM_001201401.2:c.381A>T | NP_001188330.1:p.Pro127= | |
| NM_001201402.2:c.372A>T | NP_001188331.1:p.Pro124= |