Linked Data
ClinVar Variation Id:
422419
dbSNP Id:
rs148598583
ExAC:
5:149263089 T / C
gnomAD v2:
5-149263089-T-C
gnomAD v3:
5-149883526-T-C
gnomAD v4:
5-149883526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149883526T>C , CM000667.2:g.149883526T>C | GRCh38 |
| NC_000005.9:g.149263089T>C , CM000667.1:g.149263089T>C | GRCh37 |
| NC_000005.8:g.149243282T>C | NCBI36 |
| NG_009102.1:g.66268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.2038A>G MANE Select | ENSP00000255266.5:p.Met680Val | |
| ENST00000255266.9:c.2038A>G | ENSP00000255266.5:p.Met680Val | |
| ENST00000508173.5:n.2222A>G | ||
| ENST00000613228.1:c.1795A>G | ENSP00000478060.1:p.Met599Val | |
| ENST00000617647.4:c.1795A>G | ENSP00000482774.1:p.Met599Val | |
| NM_000440.2:c.2038A>G | NP_000431.2:p.Met680Val | |
| XM_011537648.1:c.2038A>G | XP_011535950.1:p.Met680Val | |
| XM_011537649.1:c.1492A>G | XP_011535951.1:p.Met498Val | |
| XM_011537650.1:c.1153A>G | XP_011535952.1:p.Met385Val | |
| XM_011537651.1:c.991A>G | XP_011535953.1:p.Met331Val | |
| XM_011537652.1:c.961A>G | XP_011535954.1:p.Met321Val | |
| XM_011537653.1:c.961A>G | XP_011535955.1:p.Met321Val | |
| XM_011537654.1:c.961A>G | XP_011535956.1:p.Met321Val | |
| XM_011537650.2:c.1153A>G | XP_011535952.1:p.Met385Val | |
| XM_011537651.2:c.991A>G | XP_011535953.1:p.Met331Val | |
| XM_011537653.2:c.961A>G | XP_011535955.1:p.Met321Val | |
| XM_011537654.2:c.961A>G | XP_011535956.1:p.Met321Val | |
| XM_017009572.2:c.1795A>G | XP_016865061.1:p.Met599Val | |
| NM_000440.3:c.2038A>G MANE Select | NP_000431.2:p.Met680Val |