MyVariant.info:
GRCh37
chr8:g.37823117G>A
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965599G>A , CM000670.2:g.37965599G>A | GRCh38 |
| NC_000008.10:g.37823117G>A , CM000670.1:g.37823117G>A | GRCh37 |
| NC_000008.9:g.37942274G>A | NCBI36 |
| NG_011936.1:g.6068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.871C>T MANE Select | ENSP00000343782.3:p.Leu291= | |
| ENST00000520341.2:n.999C>T | ||
| ENST00000647937.1:c.355C>T | ENSP00000497740.1:p.Leu119= | |
| ENST00000345060.4:c.871C>T | ENSP00000343782.3:p.Leu291= | |
| ENST00000520341.1:n.146C>T | ||
| ENST00000614635.1:c.871C>T | ENSP00000480325.1:p.Leu291= | |
| NM_000025.2:c.871C>T | NP_000016.1:p.Leu291= | |
| NM_000025.3:c.871C>T MANE Select | NP_000016.1:p.Leu291= |