gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78964596C>G , CM000667.2:g.78964596C>G | GRCh38 |
| NC_000005.9:g.78260419C>G , CM000667.1:g.78260419C>G | GRCh37 |
| NC_000005.8:g.78296175C>G | NCBI36 |
| NG_007089.1:g.26939G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.510G>C MANE Select | ENSP00000264914.4:p.Leu170= | |
| ENST00000565165.2:c.510G>C | ENSP00000456339.2:p.Leu170= | |
| ENST00000264914.8:c.510G>C | ENSP00000264914.4:p.Leu170= | |
| ENST00000396151.7:c.510G>C | ENSP00000379455.3:p.Leu170= | |
| ENST00000565165.1:c.510G>C | ENSP00000456339.1:p.Leu170= | |
| NM_000046.3:c.510G>C | NP_000037.2:p.Leu170= | |
| NM_198709.2:c.510G>C | NP_942002.1:p.Leu170= | |
| XM_005248506.3:c.510G>C | XP_005248563.1:p.Leu170= | |
| XM_006714615.2:c.510G>C | XP_006714678.1:p.Leu170= | |
| XM_011543390.1:c.510G>C | XP_011541692.1:p.Leu170= | |
| XM_011543391.1:c.510G>C | XP_011541693.1:p.Leu170= | |
| XM_011543392.1:c.510G>C | XP_011541694.1:p.Leu170= | |
| XM_011543393.1:c.510G>C | XP_011541695.1:p.Leu170= | |
| NM_000046.4:c.510G>C | NP_000037.2:p.Leu170= | |
| XM_011543391.3:c.510G>C | XP_011541693.1:p.Leu170= | |
| XM_011543392.3:c.510G>C | XP_011541694.1:p.Leu170= | |
| XM_011543393.2:c.510G>C | XP_011541695.1:p.Leu170= | |
| XM_017009471.2:c.510G>C | XP_016864960.1:p.Leu170= | |
| XR_001742065.2:n.581G>C | ||
| XR_001742066.2:n.581G>C | ||
| NM_000046.5:c.510G>C MANE Select | NP_000037.2:p.Leu170= | |
| NM_198709.3:c.510G>C | NP_942002.1:p.Leu170= |