Linked Data
dbSNP Id:
rs151344514
ExAC:
18:12337519 T / A
gnomAD v2:
18-12337519-T-A
gnomAD v4:
18-12337520-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337520T>A , CM000680.2:g.12337520T>A | GRCh38 |
| NC_000018.9:g.12337519T>A , CM000680.1:g.12337519T>A | GRCh37 |
| NC_000018.8:g.12327519T>A | NCBI36 |
| NG_023361.1:g.44757A>T , LRG_666:g.44757A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1592A>T (AFG3L2) | ENSP00000508998.1:n.*1592A>T | |
| ENST00000687477.1:n.532A>T (AFG3L2) | ||
| ENST00000688199.1:c.1858A>T (AFG3L2) | ENSP00000510237.1:p.Met620Leu | |
| ENST00000691179.1:c.1921A>T (AFG3L2) | ENSP00000509010.1:p.Met641Leu | |
| ENST00000691970.1:c.*1373A>T (AFG3L2) | ENSP00000508440.1:n.*1373A>T | |
| ENST00000692497.1:c.*426A>T (AFG3L2) | ENSP00000509870.1:n.*426A>T | |
| ENST00000692988.1:n.1814A>T (AFG3L2) | ||
| ENST00000269143.8:c.1996A>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Met666Leu | |
| ENST00000269143.7:c.1996A>T (AFG3L2) | ENSP00000269143.2:p.Met666Leu | |
| ENST00000586691.1:c.88-6529T>A (TUBB6) | ||
| NM_006796.2:c.1996A>T , LRG_666t1:c.1996A>T (AFG3L2) | NP_006787.2:p.Met666Leu | |
| XM_011525601.1:c.1795A>T (AFG3L2) | XP_011523903.1:p.Met599Leu | |
| XM_011525601.3:c.1795A>T (AFG3L2) | XP_011523903.1:p.Met599Leu | |
| XR_002958227.1:n.451+618T>A | ||
| NM_006796.3:c.1996A>T (AFG3L2) MANE Select | NP_006787.2:p.Met666Leu |