Linked Data
dbSNP Id:
rs119465999
ExAC:
16:69199289 C / A
gnomAD v2:
16-69199289-C-A
gnomAD v4:
16-69165386-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69165386C>A , CM000678.2:g.69165386C>A | GRCh38 |
| NC_000016.9:g.69199289C>A , CM000678.1:g.69199289C>A | GRCh37 |
| NC_000016.8:g.67756790C>A | NCBI36 |
| NG_008278.1:g.37791C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314423.12:c.1693C>A MANE Select | ENSP00000327179.7:p.Arg565= | |
| ENST00000314423.11:c.1693C>A | ENSP00000327179.7:p.Arg565= | |
| ENST00000352319.8:c.1348C>A | ENSP00000339164.4:p.Arg450= | |
| ENST00000562237.5:c.1735C>A | ENSP00000456709.1:p.Arg579= | |
| ENST00000563094.5:c.1693C>A | ENSP00000456622.1:p.Arg565= | |
| ENST00000567500.1:c.519+2208C>A | ENSP00000456317.1:n.519+2208C>A | |
| NM_032830.2:c.1693C>A | NP_116219.2:p.Arg565= | |
| XM_005256204.1:c.1444C>A | XP_005256261.1:p.Arg482= | |
| XM_005256205.2:c.1276C>A | XP_005256262.2:p.Arg426= | |
| NM_001318391.1:c.1444C>A | NP_001305320.1:p.Arg482= | |
| XM_005256205.3:c.1276C>A | XP_005256262.2:p.Arg426= | |
| XR_001752011.2:n.1690C>A | ||
| NM_032830.3:c.1693C>A MANE Select | NP_116219.2:p.Arg565= | |
| NM_001318391.2:c.1444C>A | NP_001305320.1:p.Arg482= |