gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00207056 (SAS)
Genomes Max Group AF
0.00112327 (SAS)
Exomes Max Group AF
0.00207697 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33170067G>A , CM000668.2:g.33170067G>A | GRCh38 |
| NC_000006.11:g.33137844G>A , CM000668.1:g.33137844G>A | GRCh37 |
| NC_000006.10:g.33245822G>A | NCBI36 |
| NG_011589.1:g.27402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3616C>T MANE Select | ENSP00000339915.2:p.Leu1206= | |
| ENST00000341947.6:c.3616C>T | ENSP00000339915.2:p.Leu1206= | |
| ENST00000361917.5:c.3295C>T | ENSP00000355123.1:p.Leu1099= | |
| ENST00000374708.8:c.3358C>T | ENSP00000363840.4:p.Leu1120= | |
| ENST00000477772.1:n.273-4251C>T | ||
| NM_080679.2:c.3295C>T | NP_542410.2:p.Leu1099= | |
| NM_080680.2:c.3616C>T | NP_542411.2:p.Leu1206= | |
| NM_080681.2:c.3358C>T | NP_542412.2:p.Leu1120= | |
| XM_011514298.1:c.2770C>T | XP_011512600.1:p.Leu924= | |
| XM_011514299.1:c.2902C>T | XP_011512601.1:p.Leu968= | |
| XM_011514300.1:c.2722C>T | XP_011512602.1:p.Leu908= | |
| XM_011514301.1:c.2659C>T | XP_011512603.1:p.Leu887= | |
| XM_011514302.1:c.2503C>T | XP_011512604.1:p.Leu835= | |
| XM_011514299.2:c.2902C>T | XP_011512601.1:p.Leu968= | |
| XM_011514300.2:c.2722C>T | XP_011512602.1:p.Leu908= | |
| XM_011514302.2:c.2503C>T | XP_011512604.1:p.Leu835= | |
| XM_017010250.1:c.3616C>T | XP_016865739.1:p.Leu1206= | |
| XM_017010251.2:c.2434C>T | XP_016865740.1:p.Leu812= | |
| NM_080680.3:c.3616C>T MANE Select | NP_542411.2:p.Leu1206= | |
| NM_080681.3:c.3358C>T | NP_542412.2:p.Leu1120= | |
| NM_080679.3:c.3295C>T | NP_542410.2:p.Leu1099= |