gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100132111C>T , CM000677.2:g.100132111C>T | GRCh38 |
| NC_000015.9:g.100672316C>T , CM000677.1:g.100672316C>T | GRCh37 |
| NC_000015.8:g.98489839C>T | NCBI36 |
| NG_016287.1:g.214868G>A | |
| NG_016287.2:g.214868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.1617G>A MANE Select | ENSP00000268070.4:p.Pro539= | |
| ENST00000568565.2:c.1617G>A | ENSP00000456161.2:p.Pro539= | |
| ENST00000268070.8:c.1617G>A | ENSP00000268070.4:p.Pro539= | |
| ENST00000378898.8:n.1298G>A | ||
| NM_139057.2:c.1617G>A | NP_620688.2:p.Pro539= | |
| XM_005254872.2:c.1617G>A | XP_005254929.1:p.Pro539= | |
| XM_011521312.1:c.1617G>A | XP_011519614.1:p.Pro539= | |
| NM_139057.3:c.1617G>A | NP_620688.2:p.Pro539= | |
| XM_005254872.3:c.1617G>A | XP_005254929.1:p.Pro539= | |
| XM_011521312.2:c.1617G>A | XP_011519614.1:p.Pro539= | |
| XM_017021973.2:c.1749G>A | XP_016877462.1:p.Pro583= | |
| XM_017021974.1:c.1749G>A | XP_016877463.1:p.Pro583= | |
| XM_017021975.1:c.1749G>A | XP_016877464.1:p.Pro583= | |
| XM_017021976.1:c.1020G>A | XP_016877465.1:p.Pro340= | |
| XM_017021977.1:c.1749G>A | XP_016877466.1:p.Pro583= | |
| XM_017021978.1:c.651G>A | XP_016877467.1:p.Pro217= | |
| XM_017021979.1:c.429G>A | XP_016877468.1:p.Pro143= | |
| XM_017021980.1:c.429G>A | XP_016877469.1:p.Pro143= | |
| XM_017021981.1:c.1749G>A | XP_016877470.1:p.Pro583= | |
| XM_017021982.1:c.138G>A | XP_016877471.1:p.Pro46= | |
| XM_017021983.1:c.27-15098G>A | XP_016877472.1:n.27-15098G>A | |
| XM_017021984.1:c.888G>A | XP_016877473.1:p.Pro296= | |
| XR_001751118.1:n.2771G>A | ||
| XR_001751119.1:n.2771G>A | ||
| XR_001751120.1:n.2771G>A | ||
| NM_139057.4:c.1617G>A MANE Select | NP_620688.2:p.Pro539= |