ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222232080G>A , CM000664.2:g.222232080G>A | GRCh38 |
| NC_000002.11:g.223096799G>A , CM000664.1:g.223096799G>A | GRCh37 |
| NC_000002.10:g.222805043G>A | NCBI36 |
| NG_011632.1:g.71902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.790C>T | ENSP00000338767.5:p.Gln264Ter | |
| ENST00000344493.9:c.790C>T | ENSP00000342092.4:p.Gln264Ter | |
| ENST00000350526.9:c.790C>T | ENSP00000343052.4:p.Gln264Ter | |
| ENST00000392070.7:c.790C>T MANE Select | ENSP00000375922.3:p.Gln264Ter | |
| ENST00000646154.1:n.604C>T | ||
| ENST00000336840.10:c.790C>T | ENSP00000338767.5:p.Gln264Ter | |
| ENST00000344493.8:c.790C>T | ENSP00000342092.4:p.Gln264Ter | |
| ENST00000350526.8:c.790C>T | ENSP00000343052.4:p.Gln264Ter | |
| ENST00000392069.6:c.790C>T | ENSP00000375921.2:p.Gln264Ter | |
| ENST00000392070.6:c.790C>T | ENSP00000375922.2:p.Gln264Ter | |
| ENST00000409551.7:c.787C>T | ENSP00000386750.3:p.Gln263Ter | |
| NM_001127366.2:c.787C>T | NP_001120838.1:p.Gln263Ter | |
| NM_181457.3:c.790C>T | NP_852122.1:p.Gln264Ter | |
| NM_181458.3:c.790C>T | NP_852123.1:p.Gln264Ter | |
| NM_181459.3:c.790C>T | NP_852124.1:p.Gln264Ter | |
| NM_181460.3:c.790C>T | NP_852125.1:p.Gln264Ter | |
| NM_181461.3:c.790C>T | NP_852126.1:p.Gln264Ter | |
| XM_011511278.1:c.934C>T | XP_011509580.1:p.Gln312Ter | |
| XM_011511279.1:c.226C>T | XP_011509581.1:p.Gln76Ter | |
| XR_923945.1:n.287+10110G>A | ||
| XR_923946.1:n.356G>A | ||
| NM_001127366.3:c.787C>T | NP_001120838.1:p.Gln263Ter | |
| NM_181457.4:c.790C>T | NP_852122.1:p.Gln264Ter | |
| NM_181458.4:c.790C>T MANE Select | NP_852123.1:p.Gln264Ter | |
| NM_181459.4:c.790C>T | NP_852124.1:p.Gln264Ter | |
| NM_181460.4:c.790C>T | NP_852125.1:p.Gln264Ter | |
| NM_181461.4:c.790C>T | NP_852126.1:p.Gln264Ter |