Linked Data
dbSNP Id:
rs772809204
ExAC:
18:12337515 T / C
gnomAD v2:
18-12337515-T-C
gnomAD v3:
18-12337516-T-C
gnomAD v4:
18-12337516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337516T>C , CM000680.2:g.12337516T>C | GRCh38 |
| NC_000018.9:g.12337515T>C , CM000680.1:g.12337515T>C | GRCh37 |
| NC_000018.8:g.12327515T>C | NCBI36 |
| NG_023361.1:g.44761A>G , LRG_666:g.44761A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1596A>G (AFG3L2) | ENSP00000508998.1:n.*1596A>G | |
| ENST00000687477.1:n.536A>G (AFG3L2) | ||
| ENST00000688199.1:c.1862A>G (AFG3L2) | ENSP00000510237.1:p.Asn621Ser | |
| ENST00000691179.1:c.1925A>G (AFG3L2) | ENSP00000509010.1:p.Asn642Ser | |
| ENST00000691970.1:c.*1377A>G (AFG3L2) | ENSP00000508440.1:n.*1377A>G | |
| ENST00000692497.1:c.*430A>G (AFG3L2) | ENSP00000509870.1:n.*430A>G | |
| ENST00000692988.1:n.1818A>G (AFG3L2) | ||
| ENST00000269143.8:c.2000A>G (AFG3L2) MANE Select | ENSP00000269143.2:p.Asn667Ser | |
| ENST00000269143.7:c.2000A>G (AFG3L2) | ENSP00000269143.2:p.Asn667Ser | |
| ENST00000586691.1:c.88-6533T>C (TUBB6) | ||
| NM_006796.2:c.2000A>G , LRG_666t1:c.2000A>G (AFG3L2) | NP_006787.2:p.Asn667Ser | |
| XM_011525601.1:c.1799A>G (AFG3L2) | XP_011523903.1:p.Asn600Ser | |
| XM_011525601.3:c.1799A>G (AFG3L2) | XP_011523903.1:p.Asn600Ser | |
| XR_002958227.1:n.451+614T>C | ||
| NM_006796.3:c.2000A>G (AFG3L2) MANE Select | NP_006787.2:p.Asn667Ser |