Linked Data
ClinVar Variation Id:
384254
dbSNP Id:
rs113219939
ExAC:
16:5123201 A / C
gnomAD v2:
16-5123201-A-C
gnomAD v3:
16-5073200-A-C
gnomAD v4:
16-5073200-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5073200A>C , CM000678.2:g.5073200A>C | GRCh38 |
| NC_000016.9:g.5123201A>C , CM000678.1:g.5123201A>C | GRCh37 |
| NC_000016.8:g.5063202A>C | NCBI36 |
| NG_009202.1:g.6392A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.341A>C | ||
| ENST00000682020.1:c.-55-4245A>C | ENSP00000508075.1:n.-55-4245A>C | |
| ENST00000682206.1:c.334A>C | ENSP00000508285.1:p.Met112Leu | |
| ENST00000682314.1:n.378A>C | ||
| ENST00000682327.1:c.-99-2188A>C | ENSP00000507058.1:n.-99-2188A>C | |
| ENST00000682349.1:n.341A>C | ||
| ENST00000682703.1:n.341A>C | ||
| ENST00000682797.1:c.334A>C | ENSP00000507582.1:p.Met112Leu | |
| ENST00000682985.1:c.-99-2188A>C | ENSP00000507598.1:n.-99-2188A>C | |
| ENST00000683433.1:c.-55-4245A>C | ENSP00000507463.1:n.-55-4245A>C | |
| ENST00000683685.1:n.378A>C | ||
| ENST00000683710.1:c.334A>C | ENSP00000506785.1:p.Met112Leu | |
| ENST00000683739.1:c.1A>C | ENSP00000507002.1:p.Met1Leu | |
| ENST00000683772.1:n.378A>C | ||
| ENST00000684008.1:c.268A>C | ENSP00000507962.1:p.Met90Leu | |
| ENST00000684190.1:c.334A>C | ENSP00000507554.1:p.Met112Leu | |
| ENST00000684335.1:c.334A>C | ENSP00000508112.1:p.Met112Leu | |
| ENST00000262374.10:c.334A>C MANE Select | ENSP00000262374.5:p.Met112Leu | |
| ENST00000650085.1:n.1138A>C | ||
| ENST00000262374.9:c.334A>C | ENSP00000262374.4:p.Met112Leu | |
| ENST00000544428.1:c.1A>C | ENSP00000440019.1:p.Met1Leu | |
| ENST00000586840.1:c.334A>C | ENSP00000467538.1:p.Met112Leu | |
| ENST00000588623.5:c.1A>C | ENSP00000468118.1:p.Met1Leu | |
| ENST00000591783.5:c.1A>C | ENSP00000464700.1:p.Met1Leu | |
| ENST00000591822.5:c.*235A>C | ENSP00000467865.1:n.*235A>C | |
| ENST00000592793.5:n.341A>C | ||
| NM_019109.4:c.334A>C | NP_061982.3:p.Met112Leu | |
| XM_011522565.1:c.1A>C | XP_011520867.1:p.Met1Leu | |
| XR_932882.1:n.375A>C | ||
| NM_001330504.1:c.1A>C | NP_001317433.1:p.Met1Leu | |
| XM_017023457.2:c.334A>C | XP_016878946.1:p.Met112Leu | |
| XM_017023458.1:c.1A>C | XP_016878947.1:p.Met1Leu | |
| XR_932882.3:n.359A>C | ||
| NM_019109.5:c.334A>C MANE Select | NP_061982.3:p.Met112Leu | |
| NM_001330504.2:c.1A>C | NP_001317433.1:p.Met1Leu |