Linked Data
ClinVar Variation Id:
3014124
ClinVar RCV Id:
RCV003875763
dbSNP Id:
rs746890451
ExAC:
12:109959317 C / T
gnomAD v2:
12-109959317-C-T
gnomAD v4:
12-109521512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109521512C>T , CM000674.2:g.109521512C>T | GRCh38 |
| NC_000012.11:g.109959317C>T , CM000674.1:g.109959317C>T | GRCh37 |
| NC_000012.10:g.108443700C>T | NCBI36 |
| NG_033898.1:g.48890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342494.8:c.2325C>T MANE Select | ENSP00000340596.3:p.Phe775= | |
| ENST00000342494.7:c.2325C>T | ENSP00000340596.3:p.Phe775= | |
| ENST00000434735.6:c.2325C>T | ENSP00000391529.2:p.Phe775= | |
| ENST00000449510.6:c.*295C>T | ENSP00000395802.2:n.*295C>T | |
| ENST00000538070.1:n.1841C>T | ||
| ENST00000539584.5:n.1849C>T | ||
| ENST00000539599.5:c.2325C>T | ENSP00000443131.1:p.Phe775= | |
| NM_130466.3:c.2325C>T | NP_569733.2:p.Phe775= | |
| NM_183415.2:c.2325C>T | NP_904324.1:p.Phe775= | |
| XM_005253987.1:c.2325C>T | XP_005254044.1:p.Phe775= | |
| XM_006719681.2:c.2325C>T | XP_006719744.1:p.Phe775= | |
| XM_006719682.1:c.2325C>T | XP_006719745.1:p.Phe775= | |
| XM_011538959.1:c.2325C>T | XP_011537261.1:p.Phe775= | |
| XM_011538960.1:c.2325C>T | XP_011537262.1:p.Phe775= | |
| XM_011538961.1:c.2325C>T | XP_011537263.1:p.Phe775= | |
| XM_011538962.1:c.2325C>T | XP_011537264.1:p.Phe775= | |
| XR_429118.2:n.3152C>T | ||
| XM_005253987.2:c.2325C>T | XP_005254044.1:p.Phe775= | |
| XM_006719681.3:c.2325C>T | XP_006719744.1:p.Phe775= | |
| XM_006719682.2:c.2325C>T | XP_006719745.1:p.Phe775= | |
| XM_011538959.2:c.2325C>T | XP_011537261.1:p.Phe775= | |
| XM_017020195.1:c.1746C>T | XP_016875684.1:p.Phe582= | |
| XM_024449269.1:c.1746C>T | XP_024305037.1:p.Phe582= | |
| XR_429118.3:n.3152C>T | ||
| XR_429119.4:n.3341C>T | ||
| NM_130466.4:c.2325C>T MANE Select | NP_569733.2:p.Phe775= | |
| NM_183415.3:c.2325C>T | NP_904324.1:p.Phe775= |