Linked Data
dbSNP Id:
rs752703482
ExAC:
18:55342078 T / C
gnomAD v2:
18-55342078-T-C
gnomAD v4:
18-57674846-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57674846T>C , CM000680.2:g.57674846T>C | GRCh38 |
| NC_000018.9:g.55342078T>C , CM000680.1:g.55342078T>C | GRCh37 |
| NC_000018.8:g.53493076T>C | NCBI36 |
| NG_007148.2:g.133250A>G | |
| NG_007148.3:g.133977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.1807A>G | ENSP00000494712.1:p.Met603Val | |
| ENST00000648039.1:c.1807A>G | ENSP00000497863.1:p.Met603Val | |
| ENST00000648467.1:c.1672A>G | ||
| ENST00000648908.2:c.1807A>G MANE Select | ENSP00000497896.1:p.Met603Val | |
| ENST00000283684.8:c.1807A>G | ENSP00000283684.4:p.Met603Val | |
| ENST00000536015.5:c.1807A>G | ENSP00000445359.1:p.Met603Val | |
| NM_005603.4:c.1807A>G | NP_005594.1:p.Met603Val | |
| XM_006722481.2:c.1807A>G | XP_006722544.1:p.Met603Val | |
| XM_011526020.1:c.1807A>G | XP_011524322.1:p.Met603Val | |
| XM_011526021.1:c.1807A>G | XP_011524323.1:p.Met603Val | |
| XM_011526022.1:c.1807A>G | XP_011524324.1:p.Met603Val | |
| XM_011526023.1:c.1693A>G | XP_011524325.1:p.Met565Val | |
| XM_011526024.1:c.1087A>G | XP_011524326.1:p.Met363Val | |
| NM_005603.6:c.1807A>G | NP_005594.2:p.Met603Val | |
| XM_006722481.4:c.1807A>G | XP_006722544.1:p.Met603Val | |
| XM_011526023.3:c.1693A>G | XP_011524325.1:p.Met565Val | |
| NM_001374385.1:c.1807A>G MANE Select | NP_001361314.1:p.Met603Val | |
| NM_001374386.1:c.1657A>G | NP_001361315.1:p.Met553Val |