Linked Data
dbSNP Id:
rs779860668
ExAC:
4:74280828 A / T
gnomAD v2:
4-74280828-A-T
gnomAD v4:
4-73415111-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415111A>T , CM000666.2:g.73415111A>T | GRCh38 |
| NC_000004.11:g.74280828A>T , CM000666.1:g.74280828A>T | GRCh37 |
| NC_000004.10:g.74499692A>T | NCBI36 |
| NG_009291.1:g.15857A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1135A>T MANE Select | ENSP00000295897.4:p.Thr379Ser | |
| ENST00000295897.8:c.1135A>T | ENSP00000295897.4:p.Thr379Ser | |
| ENST00000401494.7:c.790A>T | ENSP00000384695.3:p.Thr264Ser | |
| ENST00000415165.6:c.559A>T | ENSP00000401820.2:p.Thr187Ser | |
| ENST00000476441.6:c.*414A>T | ENSP00000423727.1:n.*414A>T | |
| ENST00000484992.1:n.455A>T | ||
| ENST00000503124.5:c.685A>T | ENSP00000421027.1:p.Thr229Ser | |
| ENST00000504043.1:n.138A>T | ||
| ENST00000505649.5:n.821A>T | ||
| ENST00000509063.5:c.1135A>T | ENSP00000422784.1:p.Thr379Ser | |
| ENST00000511370.1:c.668A>T | ||
| ENST00000621085.4:c.496A>T | ENSP00000483421.1:p.Thr166Ser | |
| ENST00000621628.4:c.496A>T | ENSP00000480485.1:p.Thr166Ser | |
| NM_000477.5:c.1135A>T | NP_000468.1:p.Thr379Ser | |
| NM_000477.6:c.1135A>T | NP_000468.1:p.Thr379Ser | |
| NM_000477.7:c.1135A>T MANE Select | NP_000468.1:p.Thr379Ser |