gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000482 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2656165G>A , CM000680.2:g.2656165G>A | GRCh38 |
| NC_000018.9:g.2656164G>A , CM000680.1:g.2656164G>A | GRCh37 |
| NC_000018.8:g.2646164G>A | NCBI36 |
| NG_031972.1:g.5279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.247G>A | ||
| ENST00000688342.1:c.90G>A | ENSP00000508422.1:p.Leu30= | |
| ENST00000320876.11:c.90G>A MANE Select | ENSP00000326603.7:p.Leu30= | |
| ENST00000320876.10:c.90G>A | ENSP00000326603.6:p.Leu30= | |
| NM_015295.2:c.90G>A | NP_056110.2:p.Leu30= | |
| XM_011525642.1:c.90G>A | XP_011523944.1:p.Leu30= | |
| XM_011525643.1:c.90G>A | XP_011523945.1:p.Leu30= | |
| XM_011525646.1:c.90G>A | XP_011523948.1:p.Leu30= | |
| XM_011525647.1:c.90G>A | XP_011523949.1:p.Leu30= | |
| XR_430039.1:n.279G>A | ||
| XR_935054.1:n.279G>A | ||
| XR_935055.1:n.279G>A | ||
| XM_011525643.2:c.90G>A | XP_011523945.1:p.Leu30= | |
| XM_017025684.1:c.-653G>A | XP_016881173.1:n.-653G>A | |
| XR_001753172.1:n.279G>A | ||
| XR_001753173.1:n.279G>A | ||
| XR_001753174.1:n.279G>A | ||
| XR_001753175.1:n.279G>A | ||
| XR_001753176.1:n.279G>A | ||
| XR_001753177.1:n.279G>A | ||
| XR_001753178.1:n.279G>A | ||
| XR_001753179.1:n.279G>A | ||
| XR_935055.2:n.279G>A | ||
| NM_015295.3:c.90G>A MANE Select | NP_056110.2:p.Leu30= |