Linked Data
dbSNP Id:
rs767733978
ExAC:
4:74280820 C / T
gnomAD v2:
4-74280820-C-T
gnomAD v4:
4-73415103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415103C>T , CM000666.2:g.73415103C>T | GRCh38 |
| NC_000004.11:g.74280820C>T , CM000666.1:g.74280820C>T | GRCh37 |
| NC_000004.10:g.74499684C>T | NCBI36 |
| NG_009291.1:g.15849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1127C>T MANE Select | ENSP00000295897.4:p.Thr376Ile | |
| ENST00000295897.8:c.1127C>T | ENSP00000295897.4:p.Thr376Ile | |
| ENST00000401494.7:c.782C>T | ENSP00000384695.3:p.Thr261Ile | |
| ENST00000415165.6:c.551C>T | ENSP00000401820.2:p.Thr184Ile | |
| ENST00000476441.6:c.*406C>T | ENSP00000423727.1:n.*406C>T | |
| ENST00000484992.1:n.447C>T | ||
| ENST00000503124.5:c.677C>T | ENSP00000421027.1:p.Thr226Ile | |
| ENST00000504043.1:n.130C>T | ||
| ENST00000505649.5:n.813C>T | ||
| ENST00000509063.5:c.1127C>T | ENSP00000422784.1:p.Thr376Ile | |
| ENST00000511370.1:c.660C>T | ||
| ENST00000621085.4:c.491-3C>T | ENSP00000483421.1:n.491-3C>T | |
| ENST00000621628.4:c.488C>T | ENSP00000480485.1:p.Thr163Ile | |
| NM_000477.5:c.1127C>T | NP_000468.1:p.Thr376Ile | |
| NM_000477.6:c.1127C>T | NP_000468.1:p.Thr376Ile | |
| NM_000477.7:c.1127C>T MANE Select | NP_000468.1:p.Thr376Ile |