gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00070194 (AMR)
Genomes Max Group AF
0.00026043 (AMR)
Exomes Max Group AF
0.00078865 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572462T>C , CM000670.2:g.132572462T>C | GRCh38 |
| NC_000008.10:g.133584710T>C , CM000670.1:g.133584710T>C | GRCh37 |
| NC_000008.9:g.133653892T>C | NCBI36 |
| NG_033068.1:g.108154A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1245A>G MANE Select | ENSP00000484634.1:p.Lys415= | |
| ENST00000250173.5:c.*109A>G | ENSP00000250173.2:n.*109A>G | |
| ENST00000518642.5:c.*109A>G | ENSP00000428610.1:n.*109A>G | |
| ENST00000519595.5:c.1245A>G | ENSP00000429791.1:p.Lys415= | |
| ENST00000522597.1:n.514A>G | ||
| ENST00000522789.5:c.465A>G | ENSP00000428015.1:p.Lys155= | |
| ENST00000618342.1:c.1245A>G | ENSP00000484802.1:p.Lys415= | |
| ENST00000620350.4:c.1245A>G | ENSP00000484634.1:p.Lys415= | |
| NM_012472.4:c.1245A>G | NP_036604.2:p.Lys415= | |
| NR_073525.1:n.1469A>G | ||
| XM_006716538.2:c.1263A>G | XP_006716601.2:p.Lys421= | |
| XM_011516950.1:c.1203A>G | XP_011515252.1:p.Lys401= | |
| XM_011516952.1:c.999A>G | XP_011515254.1:p.Lys333= | |
| XM_011516953.1:c.885A>G | XP_011515255.1:p.Lys295= | |
| XM_011516954.1:c.885A>G | XP_011515256.1:p.Lys295= | |
| XR_428377.2:n.1497A>G | ||
| NM_001321961.1:c.1185A>G | NP_001308890.1:p.Lys395= | |
| NM_001321962.1:c.999A>G | NP_001308891.1:p.Lys333= | |
| NM_001321963.1:c.885A>G | NP_001308892.1:p.Lys295= | |
| NM_001321964.1:c.885A>G | NP_001308893.1:p.Lys295= | |
| NM_001321965.1:c.885A>G | NP_001308894.1:p.Lys295= | |
| NM_001321966.1:c.825A>G | NP_001308895.1:p.Lys275= | |
| NM_012472.5:c.1245A>G | NP_036604.2:p.Lys415= | |
| NR_073525.2:n.1469A>G | ||
| NR_135905.1:n.1458A>G | ||
| NR_135906.1:n.899A>G | ||
| NR_135907.1:n.1145A>G | ||
| NR_135908.1:n.839A>G | ||
| NR_135909.1:n.1263A>G | ||
| NR_135910.1:n.1570A>G | ||
| NR_135911.1:n.1649A>G | ||
| NR_135912.1:n.2208A>G | ||
| NR_135913.1:n.1895A>G | ||
| XM_006716538.3:c.1263A>G | XP_006716601.2:p.Lys421= | |
| XM_011516950.2:c.1203A>G | XP_011515252.1:p.Lys401= | |
| XM_017013296.1:c.1143A>G | XP_016868785.1:p.Lys381= | |
| XM_017013297.1:c.885A>G | XP_016868786.1:p.Lys295= | |
| XM_017013298.1:c.885A>G | XP_016868787.1:p.Lys295= | |
| NM_012472.6:c.1245A>G MANE Select | NP_036604.2:p.Lys415= | |
| NM_001321961.2:c.1185A>G | NP_001308890.1:p.Lys395= | |
| NM_001321962.2:c.999A>G | NP_001308891.1:p.Lys333= | |
| NM_001321963.2:c.885A>G | NP_001308892.1:p.Lys295= | |
| NM_001321964.2:c.885A>G | NP_001308893.1:p.Lys295= | |
| NM_001321965.2:c.885A>G | NP_001308894.1:p.Lys295= | |
| NM_001321966.2:c.825A>G | NP_001308895.1:p.Lys275= | |
| NR_073525.3:n.1397A>G | ||
| NR_135905.2:n.1386A>G | ||
| NR_135906.2:n.827A>G | ||
| NR_135907.2:n.1073A>G | ||
| NR_135908.2:n.767A>G | ||
| NR_135909.2:n.1283A>G | ||
| NR_135910.2:n.1633A>G | ||
| NR_135911.2:n.1753A>G | ||
| NR_135912.2:n.2312A>G | ||
| NR_135913.2:n.1999A>G |