Linked Data
gnomAD v3:
12-109521467-C-T
gnomAD v4:
12-109521467-C-T
MyVariant Identifiers:
chr12:g.109959272C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109521467C>T , CM000674.2:g.109521467C>T | GRCh38 |
| NC_000012.11:g.109959272C>T , CM000674.1:g.109959272C>T | GRCh37 |
| NC_000012.10:g.108443655C>T | NCBI36 |
| NG_033898.1:g.48845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342494.8:c.2280C>T MANE Select | ENSP00000340596.3:p.Tyr760= | |
| ENST00000342494.7:c.2280C>T | ENSP00000340596.3:p.Tyr760= | |
| ENST00000434735.6:c.2280C>T | ENSP00000391529.2:p.Tyr760= | |
| ENST00000449510.6:c.*250C>T | ENSP00000395802.2:n.*250C>T | |
| ENST00000538070.1:n.1796C>T | ||
| ENST00000539584.5:n.1804C>T | ||
| ENST00000539599.5:c.2280C>T | ENSP00000443131.1:p.Tyr760= | |
| NM_130466.3:c.2280C>T | NP_569733.2:p.Tyr760= | |
| NM_183415.2:c.2280C>T | NP_904324.1:p.Tyr760= | |
| XM_005253987.1:c.2280C>T | XP_005254044.1:p.Tyr760= | |
| XM_006719681.2:c.2280C>T | XP_006719744.1:p.Tyr760= | |
| XM_006719682.1:c.2280C>T | XP_006719745.1:p.Tyr760= | |
| XM_011538959.1:c.2280C>T | XP_011537261.1:p.Tyr760= | |
| XM_011538960.1:c.2280C>T | XP_011537262.1:p.Tyr760= | |
| XM_011538961.1:c.2280C>T | XP_011537263.1:p.Tyr760= | |
| XM_011538962.1:c.2280C>T | XP_011537264.1:p.Tyr760= | |
| XR_429118.2:n.3107C>T | ||
| XM_005253987.2:c.2280C>T | XP_005254044.1:p.Tyr760= | |
| XM_006719681.3:c.2280C>T | XP_006719744.1:p.Tyr760= | |
| XM_006719682.2:c.2280C>T | XP_006719745.1:p.Tyr760= | |
| XM_011538959.2:c.2280C>T | XP_011537261.1:p.Tyr760= | |
| XM_017020195.1:c.1701C>T | XP_016875684.1:p.Tyr567= | |
| XM_024449269.1:c.1701C>T | XP_024305037.1:p.Tyr567= | |
| XR_429118.3:n.3107C>T | ||
| XR_429119.4:n.3296C>T | ||
| NM_130466.4:c.2280C>T MANE Select | NP_569733.2:p.Tyr760= | |
| NM_183415.3:c.2280C>T | NP_904324.1:p.Tyr760= |