MyVariant.info:
GRCh37
chr7:g.150647317C>T
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950229C>T , CM000669.2:g.150950229C>T | GRCh38 |
| NC_000007.13:g.150647317C>T , CM000669.1:g.150647317C>T | GRCh37 |
| NC_000007.12:g.150278250C>T | NCBI36 |
| NG_008916.1:g.32698G>A , LRG_288:g.32698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1635G>A | ||
| ENST00000684241.1:n.3170G>A | ||
| ENST00000262186.10:c.2337G>A MANE Select | ENSP00000262186.5:p.Leu779= | |
| ENST00000330883.9:c.1317G>A | ENSP00000328531.4:p.Leu439= | |
| ENST00000262186.9:c.2337G>A | ENSP00000262186.5:p.Leu779= | |
| ENST00000330883.8:c.1317G>A | ENSP00000328531.4:p.Leu439= | |
| ENST00000430723.4:c.1989G>A | ENSP00000387657.4:p.Leu663= | |
| ENST00000461280.1:n.1624G>A | ||
| ENST00000473610.5:n.1969G>A | ||
| ENST00000532957.5:n.2560G>A | ||
| NM_000238.3:c.2337G>A , LRG_288t1:c.2337G>A | NP_000229.1:p.Leu779= | |
| NM_001204798.1:c.1317G>A | NP_001191727.1:p.Leu439= | |
| NM_172056.2:c.2337G>A , LRG_288t2:c.2337G>A | NP_742053.1:p.Leu779= | |
| NM_172057.2:c.1317G>A , LRG_288t3:c.1317G>A | NP_742054.1:p.Leu439= | |
| XM_011516185.1:c.2037G>A | XP_011514487.1:p.Leu679= | |
| XM_011516186.1:c.2337G>A | XP_011514488.1:p.Leu779= | |
| XM_011516185.2:c.2037G>A | XP_011514487.1:p.Leu679= | |
| XM_011516186.3:c.2337G>A | XP_011514488.1:p.Leu779= | |
| XM_017012195.1:c.2187G>A | XP_016867684.1:p.Leu729= | |
| XM_017012196.1:c.2160G>A | XP_016867685.1:p.Leu720= | |
| NM_000238.4:c.2337G>A MANE Select | NP_000229.1:p.Leu779= | |
| NM_001204798.2:c.1317G>A | NP_001191727.1:p.Leu439= | |
| NM_172057.3:c.1317G>A | NP_742054.1:p.Leu439= |