gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001154 (NFE)
Genomes Max Group AF
0.00004842 (NFE)
Exomes Max Group AF
0.0001157 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17687794G>A , CM000685.2:g.17687794G>A | GRCh38 |
| NC_000023.10:g.17705914G>A , CM000685.1:g.17705914G>A | GRCh37 |
| NC_000023.9:g.17615835G>A | NCBI36 |
| NG_011553.2:g.317375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1013G>A | ||
| ENST00000648929.1:c.279G>A | ENSP00000497676.1:p.Pro93= | |
| ENST00000676302.1:c.618G>A MANE Select | ENSP00000502262.1:p.Pro206= | |
| ENST00000380060.7:c.618G>A | ENSP00000369400.3:p.Pro206= | |
| ENST00000398097.7:c.87G>A | ENSP00000381170.3:p.Pro29= | |
| ENST00000615422.1:c.78G>A | ENSP00000480113.1:p.Pro26= | |
| ENST00000617601.4:c.69G>A | ENSP00000478433.1:p.Pro23= | |
| NM_001136024.3:c.87G>A | NP_001129496.1:p.Pro29= | |
| NM_001291867.1:c.618G>A | NP_001278796.1:p.Pro206= | |
| NM_001291868.1:c.87G>A | NP_001278797.1:p.Pro29= | |
| NM_198270.3:c.618G>A | NP_938011.1:p.Pro206= | |
| NM_001136024.4:c.87G>A | NP_001129496.1:p.Pro29= | |
| NM_001291867.2:c.618G>A MANE Select | NP_001278796.1:p.Pro206= | |
| NM_001291868.2:c.87G>A | NP_001278797.1:p.Pro29= | |
| NM_198270.4:c.618G>A | NP_938011.1:p.Pro206= |