gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002153 (NFE)
Exomes Max Group AF
0.00002285 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101672140T>C , CM000665.2:g.101672140T>C | GRCh38 |
| NC_000003.11:g.101390984T>C , CM000665.1:g.101390984T>C | GRCh37 |
| NC_000003.10:g.102873674T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704111.1:c.384A>G | ENSP00000515702.1:p.Pro128= | |
| ENST00000704112.1:n.602A>G | ||
| ENST00000704116.1:n.602A>G | ||
| ENST00000688910.1:c.-19A>G | ENSP00000510736.1:n.-19A>G | |
| ENST00000689142.1:c.384A>G | ENSP00000510054.1:p.Pro128= | |
| ENST00000690624.1:c.384A>G | ENSP00000509924.1:p.Pro128= | |
| ENST00000690651.1:c.384A>G | ENSP00000510062.1:p.Pro128= | |
| ENST00000312938.5:c.384A>G MANE Select | ENSP00000326200.4:p.Pro128= | |
| ENST00000312938.4:c.384A>G | ENSP00000326200.4:p.Pro128= | |
| ENST00000461821.1:c.384A>G | ENSP00000417369.1:p.Pro128= | |
| NM_014415.3:c.384A>G | NP_055230.2:p.Pro128= | |
| XM_011512689.1:c.189A>G | XP_011510991.1:p.Pro63= | |
| XM_011512689.2:c.189A>G | XP_011510991.1:p.Pro63= | |
| NM_014415.4:c.384A>G MANE Select | NP_055230.2:p.Pro128= |