Linked Data
ClinVar Variation Id:
307121
ClinVar RCV Id:
RCV000281081
RCV000287039
RCV000342081
RCV000340731
RCV000376828
RCV000375552
RCV001174136
dbSNP Id:
rs546957932
ExAC:
12:110221525 G / A
gnomAD v2:
12-110221525-G-A
gnomAD v3:
12-109783720-G-A
gnomAD v4:
12-109783720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109783720G>A , CM000674.2:g.109783720G>A | GRCh38 |
| NC_000012.11:g.110221525G>A , CM000674.1:g.110221525G>A | GRCh37 |
| NC_000012.10:g.108705908G>A | NCBI36 |
| NG_017090.1:g.54688C>T , LRG_372:g.54688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2517C>T MANE Select | ENSP00000261740.2:p.Asp839= | |
| ENST00000418703.7:c.2517C>T | ENSP00000406191.2:p.Asp839= | |
| ENST00000674908.1:c.*1604C>T | ENSP00000502012.1:n.*1604C>T | |
| ENST00000675670.1:c.2517C>T | ENSP00000502135.1:p.Asp839= | |
| ENST00000261740.6:c.2517C>T | ENSP00000261740.2:p.Asp839= | |
| ENST00000418703.6:c.2517C>T | ENSP00000406191.2:p.Asp839= | |
| ENST00000536838.1:c.2415C>T | ENSP00000444336.1:p.Asp805= | |
| ENST00000537083.5:c.2337C>T | ENSP00000442738.1:p.Asp779= | |
| ENST00000538125.5:c.*900C>T | ENSP00000437449.1:n.*900C>T | |
| ENST00000541794.5:c.2376C>T | ENSP00000442167.1:p.Asp792= | |
| ENST00000544971.5:c.2196C>T | ENSP00000443611.1:p.Asp732= | |
| NM_001177428.1:c.2376C>T | NP_001170899.1:p.Asp792= | |
| NM_001177431.1:c.2415C>T | NP_001170902.1:p.Asp805= | |
| NM_001177433.1:c.2196C>T | NP_001170904.1:p.Asp732= | |
| NM_021625.4:c.2517C>T , LRG_372t1:c.2517C>T | NP_067638.3:p.Asp839= | |
| NM_147204.2:c.2337C>T | NP_671737.1:p.Asp779= | |
| XM_005253918.1:c.2517C>T | XP_005253975.1:p.Asp839= | |
| XM_011538630.1:c.2517C>T | XP_011536932.1:p.Asp839= | |
| XM_011538631.1:c.2376C>T | XP_011536933.1:p.Asp792= | |
| XM_011538632.1:c.2337C>T | XP_011536934.1:p.Asp779= | |
| XM_011538633.1:c.2196C>T | XP_011536935.1:p.Asp732= | |
| XM_011538630.2:c.2670C>T | XP_011536932.2:p.Asp890= | |
| XM_011538631.2:c.2529C>T | XP_011536933.2:p.Asp843= | |
| XM_011538632.2:c.2490C>T | XP_011536934.2:p.Asp830= | |
| XM_011538633.2:c.2349C>T | XP_011536935.2:p.Asp783= | |
| XM_017019774.1:c.2517C>T | XP_016875263.1:p.Asp839= | |
| NM_021625.5:c.2517C>T MANE Select | NP_067638.3:p.Asp839= |