gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00107006 (AFR)
Genomes Max Group AF
0.00091546 (AFR)
Exomes Max Group AF
0.00108114 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2707812T>C , CM000680.2:g.2707812T>C | GRCh38 |
| NC_000018.9:g.2707810T>C , CM000680.1:g.2707810T>C | GRCh37 |
| NC_000018.8:g.2697810T>C | NCBI36 |
| NG_031972.1:g.56925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688342.1:c.2152T>C | ENSP00000508422.1:p.Leu718= | |
| ENST00000693213.1:n.1430T>C | ||
| ENST00000320876.11:c.2152T>C MANE Select | ENSP00000326603.7:p.Leu718= | |
| ENST00000320876.10:c.2152T>C | ENSP00000326603.6:p.Leu718= | |
| ENST00000577880.5:c.565T>C | ENSP00000463049.1:p.Leu189= | |
| ENST00000581711.1:n.208T>C | ||
| ENST00000584897.5:c.117T>C | ||
| NM_015295.2:c.2152T>C | NP_056110.2:p.Leu718= | |
| XM_011525642.1:c.2152T>C | XP_011523944.1:p.Leu718= | |
| XM_011525643.1:c.2152T>C | XP_011523945.1:p.Leu718= | |
| XM_011525644.1:c.1768T>C | XP_011523946.1:p.Leu590= | |
| XM_011525645.1:c.1588T>C | XP_011523947.1:p.Leu530= | |
| XM_011525646.1:c.2152T>C | XP_011523948.1:p.Leu718= | |
| XM_011525647.1:c.2152T>C | XP_011523949.1:p.Leu718= | |
| XR_430039.1:n.2341T>C | ||
| XR_935054.1:n.2341T>C | ||
| XR_935055.1:n.2341T>C | ||
| XM_011525643.2:c.2152T>C | XP_011523945.1:p.Leu718= | |
| XM_017025684.1:c.1588T>C | XP_016881173.1:p.Leu530= | |
| XR_001753172.1:n.2341T>C | ||
| XR_001753173.1:n.2341T>C | ||
| XR_001753174.1:n.2341T>C | ||
| XR_001753175.1:n.2341T>C | ||
| XR_001753176.1:n.2341T>C | ||
| XR_001753177.1:n.2341T>C | ||
| XR_001753178.1:n.2341T>C | ||
| XR_001753179.1:n.2341T>C | ||
| XR_935055.2:n.2341T>C | ||
| NM_015295.3:c.2152T>C MANE Select | NP_056110.2:p.Leu718= |