gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87064135 (AFR)
Genomes Max Group AF
0.87022621 (AFR)
Exomes Max Group AF
0.86598354 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16068162T>C , CM000678.2:g.16068162T>C | GRCh38 |
| NC_000016.9:g.16162019T>C , CM000678.1:g.16162019T>C | GRCh37 |
| NC_000016.8:g.16069520T>C | NCBI36 |
| NG_028268.1:g.123586T>C | |
| NG_028268.2:g.123586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.1684T>C | ENSP00000382340.4:p.Leu562= | |
| ENST00000399410.8:c.1684T>C MANE Select | ENSP00000382342.3:p.Leu562= | |
| ENST00000572882.3:c.1684T>C | ENSP00000461615.2:p.Leu562= | |
| ENST00000677164.1:c.1558T>C | ENSP00000502873.1:p.Leu520= | |
| ENST00000678422.1:c.1684T>C | ENSP00000503954.1:p.Leu562= | |
| ENST00000399408.6:c.706T>C | ENSP00000382340.3:p.Leu236= | |
| ENST00000399410.7:c.1684T>C | ENSP00000382342.3:p.Leu562= | |
| ENST00000572882.2:c.1379T>C | ||
| NM_004996.3:c.1684T>C | NP_004987.2:p.Leu562= | |
| XM_011522497.1:c.1660T>C | XP_011520799.1:p.Leu554= | |
| XM_011522498.1:c.1732-3480T>C | XP_011520800.1:n.1732-3480T>C | |
| XM_011522498.2:c.1732-3480T>C | XP_011520800.1:n.1732-3480T>C | |
| XM_017023237.1:c.1738T>C | XP_016878726.1:p.Leu580= | |
| XM_017023238.1:c.1612T>C | XP_016878727.1:p.Leu538= | |
| XM_017023239.1:c.1600T>C | XP_016878728.1:p.Leu534= | |
| XM_017023240.1:c.1738T>C | XP_016878729.1:p.Leu580= | |
| XM_017023241.1:c.1474T>C | XP_016878730.1:p.Leu492= | |
| XM_017023242.1:c.1738T>C | XP_016878731.1:p.Leu580= | |
| XM_017023243.2:c.1738T>C | XP_016878732.1:p.Leu580= | |
| NM_004996.4:c.1684T>C MANE Select | NP_004987.2:p.Leu562= |