Linked Data
ClinVar Variation Id:
957863
ClinVar RCV Id:
RCV001230927
dbSNP Id:
rs758714143
gnomAD v4:
5-149895274-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149895274A>C , CM000667.2:g.149895274A>C | GRCh38 |
| NC_000005.9:g.149274837A>C , CM000667.1:g.149274837A>C | GRCh37 |
| NC_000005.8:g.149255030A>C | NCBI36 |
| NG_009102.1:g.54520T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1637T>G MANE Select | ENSP00000255266.5:p.Met546Arg | |
| ENST00000255266.9:c.1637T>G | ENSP00000255266.5:p.Met546Arg | |
| ENST00000508173.5:n.1821T>G | ||
| ENST00000613228.1:c.1394T>G | ENSP00000478060.1:p.Met465Arg | |
| ENST00000617647.4:c.1394T>G | ENSP00000482774.1:p.Met465Arg | |
| NM_000440.2:c.1637T>G | NP_000431.2:p.Met546Arg | |
| XM_011537648.1:c.1637T>G | XP_011535950.1:p.Met546Arg | |
| XM_011537649.1:c.1091T>G | XP_011535951.1:p.Met364Arg | |
| XM_011537650.1:c.752T>G | XP_011535952.1:p.Met251Arg | |
| XM_011537651.1:c.590T>G | XP_011535953.1:p.Met197Arg | |
| XM_011537652.1:c.560T>G | XP_011535954.1:p.Met187Arg | |
| XM_011537653.1:c.560T>G | XP_011535955.1:p.Met187Arg | |
| XM_011537654.1:c.560T>G | XP_011535956.1:p.Met187Arg | |
| XM_011537650.2:c.752T>G | XP_011535952.1:p.Met251Arg | |
| XM_011537651.2:c.590T>G | XP_011535953.1:p.Met197Arg | |
| XM_011537653.2:c.560T>G | XP_011535955.1:p.Met187Arg | |
| XM_011537654.2:c.560T>G | XP_011535956.1:p.Met187Arg | |
| XM_017009572.2:c.1394T>G | XP_016865061.1:p.Met465Arg | |
| NM_000440.3:c.1637T>G MANE Select | NP_000431.2:p.Met546Arg |